Linked Data
ClinVar Variation Id:
13111
ClinVar RCV Id:
RCV000013990
dbSNP Id:
rs121918577
gnomAD v4:
5-149907345-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149907345G>T , CM000667.2:g.149907345G>T | GRCh38 |
| NC_000005.9:g.149286908G>T , CM000667.1:g.149286908G>T | GRCh37 |
| NC_000005.8:g.149267101G>T | NCBI36 |
| NG_009102.1:g.42449C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1032C>A MANE Select | ENSP00000255266.5:p.Ser344Arg | |
| ENST00000255266.9:c.1032C>A | ENSP00000255266.5:p.Ser344Arg | |
| ENST00000508173.5:n.1152C>A | ||
| ENST00000613228.1:c.789C>A | ENSP00000478060.1:p.Ser263Arg | |
| ENST00000617647.4:c.789C>A | ENSP00000482774.1:p.Ser263Arg | |
| NM_000440.2:c.1032C>A | NP_000431.2:p.Ser344Arg | |
| XM_011537648.1:c.1032C>A | XP_011535950.1:p.Ser344Arg | |
| XM_011537649.1:c.486C>A | XP_011535951.1:p.Ser162Arg | |
| XM_011537650.1:c.147C>A | XP_011535952.1:p.Ser49Arg | |
| XM_011537652.1:c.-212C>A | XP_011535954.1:n.-212C>A | |
| XM_011537650.2:c.147C>A | XP_011535952.1:p.Ser49Arg | |
| XM_017009572.2:c.789C>A | XP_016865061.1:p.Ser263Arg | |
| NM_000440.3:c.1032C>A MANE Select | NP_000431.2:p.Ser344Arg |