Linked Data
dbSNP Id:
rs556149419
ExAC:
8:65537091 G / A
gnomAD v2:
8-65537091-G-A
gnomAD v3:
8-64624534-G-A
gnomAD v4:
8-64624534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64624534G>A , CM000670.2:g.64624534G>A | GRCh38 |
| NC_000008.10:g.65537091G>A , CM000670.1:g.65537091G>A | GRCh37 |
| NC_000008.9:g.65699645G>A | NCBI36 |
| NG_008338.1:g.179258C>T | |
| NG_008338.2:g.179258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.128C>T MANE Select | ENSP00000310721.3:p.Pro43Leu | |
| ENST00000310193.3:c.128C>T | ENSP00000310721.3:p.Pro43Leu | |
| NM_004820.3:c.128C>T | NP_004811.1:p.Pro43Leu | |
| NM_001324112.1:c.128C>T | NP_001311041.1:p.Pro43Leu | |
| NM_004820.4:c.128C>T | NP_004811.1:p.Pro43Leu | |
| XM_017014002.1:c.194C>T | XP_016869491.1:p.Pro65Leu | |
| NM_004820.5:c.128C>T MANE Select | NP_004811.1:p.Pro43Leu | |
| NM_001324112.2:c.128C>T | NP_001311041.1:p.Pro43Leu |