Linked Data
dbSNP Id:
rs887036706
gnomAD v2:
1-103444028-C-A
gnomAD v3:
1-102978472-C-A
gnomAD v4:
1-102978472-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102978472C>A , CM000663.2:g.102978472C>A | GRCh38 |
| NC_000001.10:g.103444028C>A , CM000663.1:g.103444028C>A | GRCh37 |
| NC_000001.9:g.103216616C>A | NCBI36 |
| NG_008033.1:g.135025G>T | |
| NG_008033.2:g.135025G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2754+236G>T MANE Select | ENSP00000359114.3:n.2754+236G>T | |
| ENST00000353414.8:c.2637+236G>T | ENSP00000302551.6:n.2637+236G>T | |
| ENST00000358392.6:c.2790+236G>T | ENSP00000351163.2:n.2790+236G>T | |
| ENST00000370096.7:c.2754+236G>T | ENSP00000359114.3:n.2754+236G>T | |
| ENST00000512756.5:c.2406+236G>T | ENSP00000426533.1:n.2406+236G>T | |
| ENST00000635193.1:c.2088+236G>T | ||
| NM_001190709.1:c.2637+236G>T | NP_001177638.1:n.2637+236G>T | |
| NM_001854.3:c.2754+236G>T | NP_001845.3:n.2754+236G>T | |
| NM_080629.2:c.2790+236G>T | NP_542196.2:n.2790+236G>T | |
| NM_080630.3:c.2406+236G>T | NP_542197.3:n.2406+236G>T | |
| XM_011540719.1:c.2754+236G>T | XP_011539021.1:n.2754+236G>T | |
| XM_011540720.1:c.987+236G>T | XP_011539022.1:n.987+236G>T | |
| XM_011540721.1:c.342+236G>T | XP_011539023.1:n.342+236G>T | |
| XR_946545.1:n.3168+236G>T | ||
| NR_134980.1:n.3088+236G>T | ||
| XM_017000334.1:c.2907+236G>T | XP_016855823.1:n.2907+236G>T | |
| XM_017000335.1:c.2901+236G>T | XP_016855824.1:n.2901+236G>T | |
| XM_017000336.1:c.2907+236G>T | XP_016855825.1:n.2907+236G>T | |
| XM_017000337.1:c.1305+236G>T | XP_016855826.1:n.1305+236G>T | |
| NM_001854.4:c.2754+236G>T MANE Select | NP_001845.3:n.2754+236G>T | |
| NM_080630.4:c.2406+236G>T | NP_542197.3:n.2406+236G>T | |
| NR_134980.2:n.3114+236G>T | ||
| NM_001190709.2:c.2637+236G>T | NP_001177638.1:n.2637+236G>T | |
| NM_080629.3:c.2790+236G>T | NP_542196.2:n.2790+236G>T |