Linked Data
dbSNP Id:
rs546747601
ExAC:
11:64520949 G / A
gnomAD v2:
11-64520949-G-A
gnomAD v3:
11-64753477-G-A
gnomAD v4:
11-64753477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753477G>A , CM000673.2:g.64753477G>A | GRCh38 |
| NC_000011.9:g.64520949G>A , CM000673.1:g.64520949G>A | GRCh37 |
| NC_000011.8:g.64277525G>A | NCBI36 |
| NG_013018.1:g.12239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.1403+42C>T MANE Select | ENSP00000164139.3:n.1403+42C>T | |
| ENST00000164139.3:c.1403+42C>T | ENSP00000164139.3:n.1403+42C>T | |
| ENST00000377432.7:c.1139+42C>T | ENSP00000366650.3:n.1139+42C>T | |
| NM_001164716.1:c.1139+42C>T | NP_001158188.1:n.1139+42C>T | |
| NM_005609.2:c.1403+42C>T | NP_005600.1:n.1403+42C>T | |
| NM_005609.3:c.1403+42C>T | NP_005600.1:n.1403+42C>T | |
| NM_005609.4:c.1403+42C>T MANE Select | NP_005600.1:n.1403+42C>T |