Linked Data
dbSNP Id:
rs1265030072
gnomAD v2:
4-142005525-C-A
gnomAD v3:
4-141084371-C-A
gnomAD v4:
4-141084371-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.141084371C>A , CM000666.2:g.141084371C>A | GRCh38 |
| NC_000004.11:g.142005525C>A , CM000666.1:g.142005525C>A | GRCh37 |
| NC_000004.10:g.142224975C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506101.2:c.-101+47954G>T | ENSP00000425947.2:n.-101+47954G>T | |
| ENST00000515673.7:c.484+47954G>T MANE Select | ENSP00000425840.1:n.484+47954G>T | |
| ENST00000306799.7:c.484+47954G>T | ENSP00000304321.3:n.484+47954G>T | |
| ENST00000420921.6:c.-5-30640G>T | ENSP00000394581.2:n.-5-30640G>T | |
| ENST00000507500.5:c.484+47954G>T | ENSP00000425568.1:n.484+47954G>T | |
| ENST00000515673.6:c.484+47954G>T | ENSP00000425840.1:n.484+47954G>T | |
| NM_020724.1:c.484+47954G>T | NP_065775.1:n.484+47954G>T | |
| XM_005263150.3:c.485-30640G>T | XP_005263207.1:n.485-30640G>T | |
| XM_011532147.1:c.34+25503G>T | XP_011530449.1:n.34+25503G>T | |
| XM_011532148.1:c.-5-30640G>T | XP_011530450.1:n.-5-30640G>T | |
| XM_005263150.5:c.485-30640G>T | XP_005263207.1:n.485-30640G>T | |
| XM_011532147.2:c.34+25503G>T | XP_011530449.1:n.34+25503G>T | |
| XM_011532148.3:c.-5-30640G>T | XP_011530450.1:n.-5-30640G>T | |
| XM_017008475.1:c.34+25503G>T | XP_016863964.1:n.34+25503G>T | |
| NM_020724.2:c.484+47954G>T MANE Select | NP_065775.1:n.484+47954G>T |