Linked Data
dbSNP Id:
rs766128960
ExAC:
9:139569138 T / A
gnomAD v2:
9-139569138-T-A
gnomAD v3:
9-136674686-T-A
gnomAD v4:
9-136674686-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674686T>A , CM000671.2:g.136674686T>A | GRCh38 |
| NC_000009.11:g.139569138T>A , CM000671.1:g.139569138T>A | GRCh37 |
| NC_000009.10:g.138688959T>A | NCBI36 |
| NG_008090.1:g.17774A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.661+49A>T MANE Select | ENSP00000360761.2:n.661+49A>T | |
| ENST00000371694.7:c.565+49A>T | ENSP00000360759.3:n.565+49A>T | |
| ENST00000371696.6:c.661+49A>T | ENSP00000360761.2:n.661+49A>T | |
| ENST00000472820.1:n.589+49A>T | ||
| ENST00000538402.1:c.661+49A>T | ENSP00000438919.1:n.661+49A>T | |
| NM_001012727.1:c.565+49A>T | NP_001012745.1:n.565+49A>T | |
| NM_006412.3:c.661+49A>T | NP_006403.2:n.661+49A>T | |
| NM_006412.4:c.661+49A>T MANE Select | NP_006403.2:n.661+49A>T | |
| NM_001012727.2:c.565+49A>T | NP_001012745.1:n.565+49A>T |