Linked Data
dbSNP Id:
rs764746269
ExAC:
5:101726729 C / T
gnomAD v2:
5-101726729-C-T
gnomAD v4:
5-102391025-C-T
COSMIC:
COSM3373608
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.102391025C>T , CM000667.2:g.102391025C>T | GRCh38 |
| NC_000005.9:g.101726729C>T , CM000667.1:g.101726729C>T | GRCh37 |
| NC_000005.8:g.101754628C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506729.6:c.1835G>A MANE Select | ENSP00000421339.1:p.Arg612His | |
| ENST00000379807.7:c.1835G>A | ENSP00000369135.3:p.Arg612His | |
| ENST00000389019.7:c.1649G>A | ENSP00000373671.3:p.Arg550His | |
| ENST00000506729.5:c.1835G>A | ENSP00000421339.1:p.Arg612His | |
| ENST00000513675.1:c.1076G>A | ENSP00000421990.1:p.Arg359His | |
| ENST00000514765.6:n.205G>A | ||
| NM_001289002.1:c.1835G>A | NP_001275931.1:p.Arg612His | |
| NM_001289004.1:c.1649G>A | NP_001275933.1:p.Arg550His | |
| NM_001308014.1:c.1076G>A | NP_001294943.1:p.Arg359His | |
| NM_173488.4:c.1835G>A | NP_775759.3:p.Arg612His | |
| XM_005271874.2:c.1835G>A | XP_005271931.1:p.Arg612His | |
| XM_011543147.1:c.1730G>A | XP_011541449.1:p.Arg577His | |
| XM_011543148.1:c.1598G>A | XP_011541450.1:p.Arg533His | |
| XM_011543149.1:c.1262G>A | XP_011541451.1:p.Arg421His | |
| XM_011543150.1:c.1106G>A | XP_011541452.1:p.Arg369His | |
| XM_011543151.1:c.1076G>A | XP_011541453.1:p.Arg359His | |
| XM_011543153.1:c.1013G>A | XP_011541455.1:p.Arg338His | |
| XM_005271874.3:c.1835G>A | XP_005271931.1:p.Arg612His | |
| XM_011543147.2:c.1730G>A | XP_011541449.1:p.Arg577His | |
| XM_011543148.2:c.1598G>A | XP_011541450.1:p.Arg533His | |
| XM_011543153.2:c.1013G>A | XP_011541455.1:p.Arg338His | |
| NM_001289002.2:c.1835G>A | NP_001275931.1:p.Arg612His | |
| NM_001289004.2:c.1649G>A | NP_001275933.1:p.Arg550His | |
| NM_001308014.2:c.1076G>A | NP_001294943.1:p.Arg359His | |
| NM_173488.5:c.1835G>A MANE Select | NP_775759.3:p.Arg612His |