Linked Data
dbSNP Id:
rs2050066
gnomAD v2:
1-71455135-T-C
gnomAD v3:
1-70989452-T-C
gnomAD v4:
1-70989452-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.70989452T>C , CM000663.2:g.70989452T>C | GRCh38 |
| NC_000001.10:g.71455135T>C , CM000663.1:g.71455135T>C | GRCh37 |
| NC_000001.9:g.71227723T>C | NCBI36 |
| NG_029509.1:g.63357A>G | |
| NG_029509.2:g.63357A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000306666.10:c.1078-15064A>G MANE Select | ENSP00000302313.5:n.1078-15064A>G | |
| ENST00000306666.9:c.1078-15064A>G | ENSP00000302313.5:n.1078-15064A>G | |
| ENST00000351052.9:c.1078-15064A>G | ENSP00000280208.8:n.1078-15064A>G | |
| ENST00000356595.8:c.1077+22853A>G | ENSP00000349003.4:n.1077+22853A>G | |
| ENST00000361210.6:c.1077+22853A>G | ENSP00000424340.1:n.1077+22853A>G | |
| ENST00000370931.7:c.1078-15064A>G | ENSP00000359969.3:n.1078-15064A>G | |
| ENST00000370932.6:c.1094+22836A>G | ENSP00000359970.3:n.1094+22836A>G | |
| ENST00000460330.5:c.1077+22853A>G | ENSP00000418073.1:n.1077+22853A>G | |
| ENST00000479353.5:c.1077+22853A>G | ENSP00000421583.1:n.1077+22853A>G | |
| ENST00000497146.5:c.1077+22853A>G | ENSP00000423561.1:n.1077+22853A>G | |
| ENST00000628037.2:c.1077+22853A>G | ENSP00000486617.1:n.1077+22853A>G | |
| NM_001126044.1:c.1078-15064A>G | NP_001119516.1:n.1078-15064A>G | |
| NM_198714.1:c.1078-15064A>G | NP_942007.1:n.1078-15064A>G | |
| NM_198716.1:c.1077+22853A>G | NP_942009.1:n.1077+22853A>G | |
| NM_198717.1:c.1077+22853A>G | NP_942010.1:n.1077+22853A>G | |
| NM_198718.1:c.1077+22853A>G | NP_942011.1:n.1077+22853A>G | |
| NM_198719.1:c.1078-15064A>G | NP_942012.1:n.1078-15064A>G | |
| NR_028292.1:n.1308+22853A>G | ||
| NR_028293.1:n.1308+22853A>G | ||
| NR_028294.1:n.1308+22853A>G | ||
| XM_011541809.1:c.1077+22853A>G | XP_011540111.1:n.1077+22853A>G | |
| XM_011541810.1:c.1078-15064A>G | XP_011540112.1:n.1078-15064A>G | |
| XM_011541811.1:c.1077+22853A>G | XP_011540113.1:n.1077+22853A>G | |
| XR_946714.1:n.1314+22853A>G | ||
| XM_011541810.3:c.1078-15064A>G | XP_011540112.1:n.1078-15064A>G | |
| XR_946714.2:n.1308+22853A>G | ||
| NM_001126044.2:c.1078-15064A>G | NP_001119516.1:n.1078-15064A>G | |
| NM_198714.2:c.1078-15064A>G | NP_942007.1:n.1078-15064A>G | |
| NM_198716.2:c.1077+22853A>G | NP_942009.1:n.1077+22853A>G | |
| NM_198717.2:c.1077+22853A>G | NP_942010.1:n.1077+22853A>G | |
| NM_198718.2:c.1077+22853A>G | NP_942011.1:n.1077+22853A>G | |
| NM_198719.2:c.1078-15064A>G MANE Select | NP_942012.1:n.1078-15064A>G | |
| NR_028292.2:n.1316+22853A>G | ||
| NR_028293.2:n.1316+22853A>G | ||
| NR_028294.2:n.1316+22853A>G |