Linked Data
ClinVar Variation Id:
138302
dbSNP Id:
rs1802059
ExAC:
5:7897319 G / A
gnomAD v2:
5-7897319-G-A
gnomAD v3:
5-7897206-G-A
gnomAD v4:
5-7897206-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7897206G>A , CM000667.2:g.7897206G>A | GRCh38 |
| NC_000005.9:g.7897319G>A , CM000667.1:g.7897319G>A | GRCh37 |
| NC_000005.8:g.7950319G>A | NCBI36 |
| NG_008856.1:g.33103G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000440940.7:c.1911G>A MANE Select | ENSP00000402510.2:p.Ala637= | |
| ENST00000264668.6:c.1992G>A | ENSP00000264668.2:p.Ala664= | |
| ENST00000440940.6:c.1911G>A | ENSP00000402510.2:p.Ala637= | |
| ENST00000510525.5:c.1847G>A | ||
| ENST00000511461.5:c.1824G>A | ||
| ENST00000513439.5:c.*1618G>A | ENSP00000426710.1:n.*1618G>A | |
| NM_002454.2:c.1911G>A | NP_002445.2:p.Ala637= | |
| NM_024010.2:c.1992G>A | NP_076915.2:p.Ala664= | |
| XM_011514043.1:c.1992G>A | XP_011512345.1:p.Ala664= | |
| XM_011514044.1:c.1911G>A | XP_011512346.1:p.Ala637= | |
| XR_241703.1:n.1918G>A | ||
| XR_925614.1:n.2037G>A | ||
| NM_001364440.1:c.1911G>A | NP_001351369.1:p.Ala637= | |
| NM_001364441.1:c.1911G>A | NP_001351370.1:p.Ala637= | |
| NM_001364442.1:c.1911G>A | NP_001351371.1:p.Ala637= | |
| NM_024010.3:c.1911G>A | NP_076915.3:p.Ala637= | |
| NR_134480.1:n.2034G>A | ||
| NR_134481.1:n.1959G>A | ||
| NR_134482.1:n.1894G>A | ||
| NR_157168.1:n.1964G>A | ||
| NR_157169.1:n.1824G>A | ||
| NR_157170.1:n.1990G>A | ||
| NR_157171.1:n.1847G>A | ||
| NR_157172.1:n.1761G>A | ||
| NR_157173.1:n.2001G>A | ||
| NR_157174.1:n.2002G>A | ||
| NR_157175.1:n.2156G>A | ||
| NR_157176.1:n.2319G>A | ||
| NR_157177.1:n.1999G>A | ||
| NR_157178.1:n.2027G>A | ||
| XM_024446063.1:c.1956G>A | XP_024301831.1:p.Ala652= | |
| XM_024446064.1:c.1911G>A | XP_024301832.1:p.Ala637= | |
| XR_001742071.1:n.2189G>A | ||
| XR_001742072.1:n.2166G>A | ||
| XR_001742074.1:n.1925G>A | ||
| XR_001742075.1:n.2077G>A | ||
| XR_001742076.1:n.2154G>A | ||
| XR_001742077.1:n.2177G>A | ||
| NM_001364440.2:c.1911G>A | NP_001351369.1:p.Ala637= | |
| NM_001364441.2:c.1911G>A | NP_001351370.1:p.Ala637= | |
| NM_001364442.2:c.1911G>A | NP_001351371.1:p.Ala637= | |
| NM_002454.3:c.1911G>A MANE Select | NP_002445.2:p.Ala637= | |
| NM_024010.4:c.1911G>A | NP_076915.3:p.Ala637= | |
| NR_134480.2:n.1990G>A | ||
| NR_134481.2:n.1915G>A | ||
| NR_134482.2:n.1850G>A | ||
| NR_157168.2:n.1964G>A | ||
| NR_157169.2:n.1824G>A | ||
| NR_157170.2:n.1990G>A | ||
| NR_157171.2:n.1847G>A | ||
| NR_157172.2:n.1761G>A | ||
| NR_157173.2:n.2001G>A | ||
| NR_157174.2:n.2002G>A | ||
| NR_157175.2:n.2156G>A | ||
| NR_157176.2:n.2319G>A | ||
| NR_157177.2:n.1999G>A | ||
| NR_157178.2:n.2027G>A |