Linked Data
dbSNP Id:
rs370076742
ExAC:
11:122929718 C / A
gnomAD v2:
11-122929718-C-A
gnomAD v3:
11-123059010-C-A
gnomAD v4:
11-123059010-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.123059010C>A , CM000673.2:g.123059010C>A | GRCh38 |
| NC_000011.9:g.122929718C>A , CM000673.1:g.122929718C>A | GRCh37 |
| NC_000011.8:g.122434928C>A | NCBI36 |
| NG_029473.1:g.8127G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534624.6:c.1323+49G>T MANE Select | ENSP00000432083.1:n.1323+49G>T | |
| ENST00000227378.7:c.1323+49G>T | ENSP00000227378.3:n.1323+49G>T | |
| ENST00000453788.6:c.1323+49G>T | ENSP00000404372.2:n.1323+49G>T | |
| ENST00000524552.5:c.96+49G>T | ENSP00000435908.1:n.96+49G>T | |
| ENST00000526110.5:c.1266+49G>T | ENSP00000433584.1:n.1266+49G>T | |
| ENST00000526686.1:c.-201G>T | ENSP00000435019.1:n.-201G>T | |
| ENST00000532091.1:n.1119G>T | ||
| ENST00000532636.5:c.1323+49G>T | ENSP00000437125.1:n.1323+49G>T | |
| ENST00000533238.5:n.425+49G>T | ||
| ENST00000533540.5:c.885+49G>T | ENSP00000437189.1:n.885+49G>T | |
| ENST00000534319.5:c.615+49G>T | ENSP00000433316.1:n.615+49G>T | |
| ENST00000534624.5:c.1323+49G>T | ENSP00000432083.1:n.1323+49G>T | |
| NM_006597.5:c.1323+49G>T | NP_006588.1:n.1323+49G>T | |
| NM_153201.3:c.1323+49G>T | NP_694881.1:n.1323+49G>T | |
| XM_011542798.1:c.1323+49G>T | XP_011541100.1:n.1323+49G>T | |
| NM_006597.6:c.1323+49G>T MANE Select | NP_006588.1:n.1323+49G>T | |
| NM_153201.4:c.1323+49G>T | NP_694881.1:n.1323+49G>T |