Linked Data
dbSNP Id:
rs1330
gnomAD v2:
11-17316029-C-T
gnomAD v3:
11-17294482-C-T
gnomAD v4:
11-17294482-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17294482C>T , CM000673.2:g.17294482C>T | GRCh38 |
| NC_000011.9:g.17316029C>T , CM000673.1:g.17316029C>T | GRCh37 |
| NC_000011.8:g.17272605C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000529010.6:c.1-842C>T MANE Select | ENSP00000436455.1:n.1-842C>T | |
| ENST00000646648.1:c.1-842C>T | ENSP00000495210.1:n.1-842C>T | |
| ENST00000323688.10:c.1-842C>T | ENSP00000320168.6:n.1-842C>T | |
| ENST00000526120.5:c.1-842C>T | ENSP00000436215.1:n.1-842C>T | |
| ENST00000528644.5:c.1-842C>T | ENSP00000431136.1:n.1-842C>T | |
| ENST00000529010.5:c.1-842C>T | ENSP00000436455.1:n.1-842C>T | |
| ENST00000529313.5:c.1-842C>T | ENSP00000431334.1:n.1-842C>T | |
| ENST00000530527.5:c.1-842C>T | ENSP00000435160.1:n.1-842C>T | |
| ENST00000530964.5:c.1-842C>T | ENSP00000431328.1:n.1-842C>T | |
| ENST00000531172.5:c.1-842C>T | ENSP00000435968.1:n.1-842C>T | |
| ENST00000533511.6:n.264-842C>T | ||
| ENST00000533738.6:c.1-842C>T | ENSP00000435558.1:n.1-842C>T | |
| ENST00000533773.5:c.1-842C>T | ENSP00000433542.1:n.1-842C>T | |
| ENST00000533926.5:c.1-842C>T | ENSP00000433194.1:n.1-842C>T | |
| NM_005013.2:c.1-842C>T | NP_005004.1:n.1-842C>T | |
| XM_011520120.1:c.4-842C>T | XP_011518422.1:n.4-842C>T | |
| XM_011520121.1:c.4-842C>T | XP_011518423.1:n.4-842C>T | |
| XM_011520122.1:c.1-842C>T | XP_011518424.1:n.1-842C>T | |
| XM_011520123.1:c.1-842C>T | XP_011518425.1:n.1-842C>T | |
| XM_011520124.1:c.1-842C>T | XP_011518426.1:n.1-842C>T | |
| XM_011520125.1:c.1-842C>T | XP_011518427.1:n.1-842C>T | |
| XM_011520126.1:c.1-842C>T | XP_011518428.1:n.1-842C>T | |
| XM_011520127.1:c.1-842C>T | XP_011518429.1:n.1-842C>T | |
| XM_011520128.1:c.1-842C>T | XP_011518430.1:n.1-842C>T | |
| XM_011520129.1:c.1-842C>T | XP_011518431.1:n.1-842C>T | |
| XM_011520130.1:c.1-842C>T | XP_011518432.1:n.1-842C>T | |
| XM_011520131.1:c.4-842C>T | XP_011518433.1:n.4-842C>T | |
| XM_011520132.1:c.4-842C>T | XP_011518434.1:n.4-842C>T | |
| XM_011520133.1:c.4-842C>T | XP_011518435.1:n.4-842C>T | |
| XR_930871.1:n.129-842C>T | ||
| NM_001330227.2:c.1-842C>T | NP_001317156.1:n.1-842C>T | |
| NM_001352661.1:c.4-842C>T | NP_001339590.1:n.4-842C>T | |
| NM_001352662.1:c.4-842C>T | NP_001339591.1:n.4-842C>T | |
| NM_001352663.1:c.4-842C>T | NP_001339592.1:n.4-842C>T | |
| NM_001352664.1:c.1-842C>T | NP_001339593.1:n.1-842C>T | |
| NM_001352665.1:c.1-842C>T | NP_001339594.1:n.1-842C>T | |
| NM_001352666.1:c.1-842C>T | NP_001339595.1:n.1-842C>T | |
| NM_001352667.1:c.1-842C>T | NP_001339596.1:n.1-842C>T | |
| NM_001352668.1:c.1-842C>T | NP_001339597.1:n.1-842C>T | |
| NM_001352669.1:c.1-842C>T | NP_001339598.1:n.1-842C>T | |
| NM_001352670.1:c.1-842C>T | NP_001339599.1:n.1-842C>T | |
| NM_001352671.1:c.1-842C>T | NP_001339600.1:n.1-842C>T | |
| NM_001352672.1:c.1-842C>T | NP_001339601.1:n.1-842C>T | |
| NM_005013.3:c.1-842C>T | NP_005004.1:n.1-842C>T | |
| XM_017017812.2:c.1-842C>T | XP_016873301.1:n.1-842C>T | |
| XM_017017813.1:c.1-842C>T | XP_016873302.1:n.1-842C>T | |
| XM_017017814.1:c.1-842C>T | XP_016873303.1:n.1-842C>T | |
| XM_017017815.1:c.1-842C>T | XP_016873304.1:n.1-842C>T | |
| XM_017017817.1:c.1-842C>T | XP_016873306.1:n.1-842C>T | |
| XM_017017818.2:c.1-842C>T | XP_016873307.1:n.1-842C>T | |
| XM_017017826.1:c.1-842C>T | XP_016873315.1:n.1-842C>T | |
| XM_017017828.1:c.1-842C>T | XP_016873317.1:n.1-842C>T | |
| XM_024448527.1:c.4-842C>T | XP_024304295.1:n.4-842C>T | |
| XM_024448528.1:c.4-842C>T | XP_024304296.1:n.4-842C>T | |
| XM_024448529.1:c.4-842C>T | XP_024304297.1:n.4-842C>T | |
| XM_024448530.1:c.4-842C>T | XP_024304298.1:n.4-842C>T | |
| XM_024448531.1:c.1-842C>T | XP_024304299.1:n.1-842C>T | |
| XM_024448532.1:c.1-842C>T | XP_024304300.1:n.1-842C>T | |
| XM_024448533.1:c.1-842C>T | XP_024304301.1:n.1-842C>T | |
| XM_024448534.1:c.1-842C>T | XP_024304302.1:n.1-842C>T | |
| XM_024448535.1:c.1-842C>T | XP_024304303.1:n.1-842C>T | |
| XM_024448536.1:c.1-842C>T | XP_024304304.1:n.1-842C>T | |
| XM_024448537.1:c.1-842C>T | XP_024304305.1:n.1-842C>T | |
| XM_024448538.1:c.1-842C>T | XP_024304306.1:n.1-842C>T | |
| XM_024448539.1:c.1-842C>T | XP_024304307.1:n.1-842C>T | |
| XM_024448540.1:c.1-842C>T | XP_024304308.1:n.1-842C>T | |
| XM_024448541.1:c.1-842C>T | XP_024304309.1:n.1-842C>T | |
| XM_024448542.1:c.1-842C>T | XP_024304310.1:n.1-842C>T | |
| XM_024448543.1:c.1-842C>T | XP_024304311.1:n.1-842C>T | |
| XM_024448544.1:c.1-842C>T | XP_024304312.1:n.1-842C>T | |
| XM_024448545.1:c.1-842C>T | XP_024304313.1:n.1-842C>T | |
| XM_024448546.1:c.1-842C>T | XP_024304314.1:n.1-842C>T | |
| XM_024448547.1:c.1-842C>T | XP_024304315.1:n.1-842C>T | |
| XM_024448548.1:c.4-842C>T | XP_024304316.1:n.4-842C>T | |
| XM_024448549.1:c.1-842C>T | XP_024304317.1:n.1-842C>T | |
| XM_024448550.1:c.1-842C>T | XP_024304318.1:n.1-842C>T | |
| XM_024448551.1:c.1-842C>T | XP_024304319.1:n.1-842C>T | |
| XM_024448552.1:c.1-842C>T | XP_024304320.1:n.1-842C>T | |
| XM_024448553.1:c.1-842C>T | XP_024304321.1:n.1-842C>T | |
| XM_024448554.1:c.4-842C>T | XP_024304322.1:n.4-842C>T | |
| NM_005013.4:c.1-842C>T MANE Select | NP_005004.1:n.1-842C>T | |
| NM_001330227.3:c.1-842C>T | NP_001317156.1:n.1-842C>T | |
| NM_001352661.2:c.4-842C>T | NP_001339590.1:n.4-842C>T | |
| NM_001352662.2:c.4-842C>T | NP_001339591.1:n.4-842C>T | |
| NM_001352663.2:c.4-842C>T | NP_001339592.1:n.4-842C>T | |
| NM_001352664.2:c.1-842C>T | NP_001339593.1:n.1-842C>T | |
| NM_001352665.2:c.1-842C>T | NP_001339594.1:n.1-842C>T | |
| NM_001352666.2:c.1-842C>T | NP_001339595.1:n.1-842C>T | |
| NM_001352667.2:c.1-842C>T | NP_001339596.1:n.1-842C>T | |
| NM_001352668.2:c.1-842C>T | NP_001339597.1:n.1-842C>T | |
| NM_001352669.2:c.1-842C>T | NP_001339598.1:n.1-842C>T | |
| NM_001352670.2:c.1-842C>T | NP_001339599.1:n.1-842C>T | |
| NM_001352671.2:c.1-842C>T | NP_001339600.1:n.1-842C>T | |
| NM_001352672.2:c.1-842C>T | NP_001339601.1:n.1-842C>T |