Linked Data
dbSNP Id:
rs7658486
gnomAD v2:
4-148884189-C-T
gnomAD v3:
4-147963038-C-T
gnomAD v4:
4-147963038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.147963038C>T , CM000666.2:g.147963038C>T | GRCh38 |
| NC_000004.11:g.148884189C>T , CM000666.1:g.148884189C>T | GRCh37 |
| NC_000004.10:g.149103639C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336498.8:c.1451-1986C>T MANE Select | ENSP00000336923.3:n.1451-1986C>T | |
| ENST00000336498.7:c.1451-1986C>T | ENSP00000336923.3:n.1451-1986C>T | |
| ENST00000506020.5:n.526-1986C>T | ||
| ENST00000506054.5:n.6583-1986C>T | ||
| ENST00000507661.1:c.483-1986C>T | ||
| NM_024605.3:c.1451-1986C>T | NP_078881.3:n.1451-1986C>T | |
| XM_005263215.2:c.1451-1986C>T | XP_005263272.1:n.1451-1986C>T | |
| XM_011532243.1:c.1097-1986C>T | XP_011530545.1:n.1097-1986C>T | |
| XM_011532244.1:c.1142-1986C>T | XP_011530546.1:n.1142-1986C>T | |
| XM_005263215.3:c.1451-1986C>T | XP_005263272.1:n.1451-1986C>T | |
| XM_017008602.1:c.1175-1986C>T | XP_016864091.1:n.1175-1986C>T | |
| XR_001741324.1:n.1650-1986C>T | ||
| NM_024605.4:c.1451-1986C>T MANE Select | NP_078881.3:n.1451-1986C>T |