Linked Data
dbSNP Id:
rs1487602349
gnomAD v2:
9-119333622-C-A
gnomAD v3:
9-116571343-C-A
gnomAD v4:
9-116571343-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.116571343C>A , CM000671.2:g.116571343C>A | GRCh38 |
| NC_000009.11:g.119333622C>A , CM000671.1:g.119333622C>A | GRCh37 |
| NC_000009.10:g.118373443C>A | NCBI36 |
| NG_021409.1:g.848696G>T | |
| NG_021409.2:g.848715G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313400.9:c.3355+46981G>T MANE Select | ENSP00000314038.4:n.3355+46981G>T | |
| ENST00000361477.8:c.3202+46981G>T | ENSP00000355116.5:n.3202+46981G>T | |
| ENST00000288520.9:c.658+46981G>T | ENSP00000288520.5:n.658+46981G>T | |
| ENST00000313400.8:c.3355+46981G>T | ENSP00000314038.4:n.3355+46981G>T | |
| ENST00000341734.8:c.511+46981G>T | ENSP00000339925.4:n.511+46981G>T | |
| ENST00000361209.6:c.3202+46981G>T | ENSP00000354504.2:n.3202+46981G>T | |
| ENST00000361477.7:c.511+46981G>T | ENSP00000355116.4:n.511+46981G>T | |
| ENST00000373986.7:c.2524+46981G>T | ENSP00000363098.3:n.2524+46981G>T | |
| NM_001184734.1:c.511+46981G>T | NP_001171663.1:n.511+46981G>T | |
| NM_014010.4:c.3202+46981G>T | NP_054729.3:n.3202+46981G>T | |
| NM_198186.3:c.658+46981G>T | NP_937829.3:n.658+46981G>T | |
| NM_198187.3:c.511+46981G>T | NP_937830.3:n.511+46981G>T | |
| NM_198188.2:c.511+46981G>T | NP_937831.1:n.511+46981G>T | |
| NM_001365068.1:c.3355+46981G>T MANE Select | NP_001351997.1:n.3355+46981G>T | |
| NM_001365069.1:c.3343+46981G>T | NP_001351998.1:n.3343+46981G>T | |
| NM_014010.5:c.3202+46981G>T | NP_054729.3:n.3202+46981G>T |