Linked Data
ClinVar Variation Id:
640
ClinVar RCV Id:
RCV000000672
dbSNP Id:
rs118203918
ExAC:
6:52880897 C / T
gnomAD v2:
6-52880897-C-T
gnomAD v3:
6-53016099-C-T
gnomAD v4:
6-53016099-C-T
PubMed:
PMID:19185282
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53016099C>T , CM000668.2:g.53016099C>T | GRCh38 |
| NC_000006.11:g.52880897C>T , CM000668.1:g.52880897C>T | GRCh37 |
| NC_000006.10:g.52988856C>T | NCBI36 |
| NG_012159.1:g.50704G>A | |
| NG_012159.2:g.50704G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000350082.10:c.815G>A | ENSP00000263043.8:p.Arg272Gln | |
| ENST00000676107.1:c.815G>A MANE Select | ENSP00000501692.1:p.Arg272Gln | |
| ENST00000350082.9:c.815G>A | ENSP00000263043.7:p.Arg272Gln | |
| ENST00000356971.3:c.815G>A | ENSP00000349458.3:p.Arg272Gln | |
| NM_014920.3:c.815G>A | NP_055735.1:p.Arg272Gln | |
| NM_016513.4:c.815G>A | NP_057597.2:p.Arg272Gln | |
| XM_011514419.1:c.815G>A | XP_011512721.1:p.Arg272Gln | |
| XM_011514420.1:c.815G>A | XP_011512722.1:p.Arg272Gln | |
| XM_011514421.1:c.815G>A | XP_011512723.1:p.Arg272Gln | |
| XM_011514420.2:c.815G>A | XP_011512722.1:p.Arg272Gln | |
| XM_017010485.1:c.815G>A | XP_016865974.1:p.Arg272Gln | |
| XM_017010486.1:c.815G>A | XP_016865975.1:p.Arg272Gln | |
| XM_017010487.1:c.815G>A | XP_016865976.1:p.Arg272Gln | |
| XM_017010488.1:c.815G>A | XP_016865977.1:p.Arg272Gln | |
| XM_017010489.1:c.815G>A | XP_016865978.1:p.Arg272Gln | |
| XM_017010490.1:c.815G>A | XP_016865979.1:p.Arg272Gln | |
| XM_017010491.1:c.815G>A | XP_016865980.1:p.Arg272Gln | |
| XM_017010492.1:c.815G>A | XP_016865981.1:p.Arg272Gln | |
| NM_001375397.1:c.815G>A | NP_001362326.1:p.Arg272Gln | |
| NM_001375398.1:c.815G>A | NP_001362327.1:p.Arg272Gln | |
| NM_001375399.1:c.815G>A | NP_001362328.1:p.Arg272Gln | |
| NM_001375400.1:c.815G>A | NP_001362329.1:p.Arg272Gln | |
| NM_001375401.1:c.815G>A | NP_001362330.1:p.Arg272Gln | |
| NM_001375402.1:c.815G>A | NP_001362331.1:p.Arg272Gln | |
| NM_014920.5:c.815G>A MANE Select | NP_055735.1:p.Arg272Gln | |
| NM_016513.5:c.815G>A | NP_057597.2:p.Arg272Gln | |
| NR_164684.1:n.1216G>A |