Linked Data
dbSNP Id:
rs769810252
ExAC:
9:139569245 G / T
gnomAD v2:
9-139569245-G-T
gnomAD v3:
9-136674793-G-T
gnomAD v4:
9-136674793-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136674793G>T , CM000671.2:g.136674793G>T | GRCh38 |
| NC_000009.11:g.139569245G>T , CM000671.1:g.139569245G>T | GRCh37 |
| NC_000009.10:g.138689066G>T | NCBI36 |
| NG_008090.1:g.17667C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371696.7:c.603C>A MANE Select | ENSP00000360761.2:p.Pro201= | |
| ENST00000371694.7:c.507C>A | ENSP00000360759.3:p.Pro169= | |
| ENST00000371696.6:c.603C>A | ENSP00000360761.2:p.Pro201= | |
| ENST00000472820.1:n.531C>A | ||
| ENST00000538402.1:c.603C>A | ENSP00000438919.1:p.Pro201= | |
| NM_001012727.1:c.507C>A | NP_001012745.1:p.Pro169= | |
| NM_006412.3:c.603C>A | NP_006403.2:p.Pro201= | |
| NM_006412.4:c.603C>A MANE Select | NP_006403.2:p.Pro201= | |
| NM_001012727.2:c.507C>A | NP_001012745.1:p.Pro169= |