Linked Data
ClinVar Variation Id:
7809
ClinVar RCV Id:
RCV000008252
dbSNP Id:
rs63750560
gnomAD v4:
5-38923237-G-C
PubMed:
PMID:18179886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38923237G>C , CM000667.2:g.38923237G>C | GRCh38 |
| NC_000005.9:g.38923339G>C , CM000667.1:g.38923339G>C | GRCh37 |
| NC_000005.8:g.38959096G>C | NCBI36 |
| NG_016236.1:g.82380G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274276.8:c.1853G>C MANE Select | ENSP00000274276.3:p.Gly618Ala | |
| ENST00000274276.7:c.1853G>C | ENSP00000274276.3:p.Gly618Ala | |
| NM_003999.2:c.1853G>C | NP_003990.1:p.Gly618Ala | |
| XM_005248384.1:c.1856G>C | XP_005248441.1:p.Gly619Ala | |
| XM_005248385.1:c.1856G>C | XP_005248442.1:p.Gly619Ala | |
| XM_011514161.1:c.1856G>C | XP_011512463.1:p.Gly619Ala | |
| XR_925661.1:n.2245G>C | ||
| NM_001323505.1:c.1853G>C | NP_001310434.1:p.Gly618Ala | |
| NM_001323506.1:c.1856G>C | NP_001310435.1:p.Gly619Ala | |
| XM_011514161.2:c.1856G>C | XP_011512463.1:p.Gly619Ala | |
| XM_017010019.1:c.1853G>C | XP_016865508.1:p.Gly618Ala | |
| NM_003999.3:c.1853G>C MANE Select | NP_003990.1:p.Gly618Ala | |
| NM_001323505.2:c.1853G>C | NP_001310434.1:p.Gly618Ala | |
| NM_001323506.2:c.1856G>C | NP_001310435.1:p.Gly619Ala |