Linked Data
dbSNP Id:
rs12045440
gnomAD v2:
1-19765518-T-G
gnomAD v3:
1-19439024-T-G
gnomAD v4:
1-19439024-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19439024T>G , CM000663.2:g.19439024T>G | GRCh38 |
| NC_000001.10:g.19765518T>G , CM000663.1:g.19765518T>G | GRCh37 |
| NC_000001.9:g.19638105T>G | NCBI36 |
| NG_029551.1:g.51549A>C | |
| NG_029551.2:g.51549A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375142.6:c.4-19274A>C | ENSP00000364284.1:n.4-19274A>C | |
| ENST00000264202.8:c.4-19274A>C MANE Select | ENSP00000264202.7:n.4-19274A>C | |
| ENST00000375144.6:c.4-19274A>C | ENSP00000364286.2:n.4-19274A>C | |
| ENST00000482808.2:n.103-19274A>C | ||
| ENST00000674390.1:n.703-19274A>C | ||
| ENST00000674432.1:c.4-19274A>C | ENSP00000501528.1:n.4-19274A>C | |
| ENST00000674449.1:c.4-19274A>C | ENSP00000501388.1:n.4-19274A>C | |
| ENST00000264202.7:c.4-19274A>C | ENSP00000264202.7:n.4-19274A>C | |
| ENST00000264203.7:c.81+9810A>C | ENSP00000264203.3:n.81+9810A>C | |
| ENST00000375142.5:c.4-19274A>C | ENSP00000364284.1:n.4-19274A>C | |
| ENST00000433834.5:c.91-19274A>C | ENSP00000401010.1:n.91-19274A>C | |
| ENST00000459967.6:n.104+46412A>C | ||
| ENST00000482808.1:n.54-19274A>C | ||
| NM_001206540.2:c.4-19274A>C | NP_001193469.1:n.4-19274A>C | |
| NM_001206541.2:c.81+9810A>C | NP_001193470.1:n.81+9810A>C | |
| NM_001282162.1:c.91-19274A>C | NP_001269091.1:n.91-19274A>C | |
| NM_001313932.1:c.4-19274A>C | NP_001300861.1:n.4-19274A>C | |
| NM_004930.4:c.4-19274A>C | NP_004921.1:n.4-19274A>C | |
| XM_006710938.2:c.84+13109A>C | XP_006711001.1:n.84+13109A>C | |
| XM_011542228.1:c.91-19274A>C | XP_011540530.1:n.91-19274A>C | |
| XR_947021.1:n.949T>G | ||
| XM_006710938.4:c.84+13109A>C | XP_006711001.1:n.84+13109A>C | |
| XM_011542228.3:c.91-19274A>C | XP_011540530.1:n.91-19274A>C | |
| XM_017002428.2:c.-33-19274A>C | XP_016857917.1:n.-33-19274A>C | |
| XM_017002429.2:c.91-19274A>C | XP_016857918.1:n.91-19274A>C | |
| XM_017002430.2:c.91-19274A>C | XP_016857919.1:n.91-19274A>C | |
| NM_004930.5:c.4-19274A>C MANE Select | NP_004921.1:n.4-19274A>C | |
| NM_001206540.3:c.4-19274A>C | NP_001193469.1:n.4-19274A>C | |
| NM_001206541.3:c.81+9810A>C | NP_001193470.1:n.81+9810A>C | |
| NM_001282162.2:c.91-19274A>C | NP_001269091.1:n.91-19274A>C | |
| NM_001313932.2:c.4-19274A>C | NP_001300861.1:n.4-19274A>C |