Linked Data
dbSNP Id:
rs756336000
ExAC:
15:50534600 A / C
gnomAD v2:
15-50534600-A-C
gnomAD v3:
15-50242403-A-C
gnomAD v4:
15-50242403-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242403A>C , CM000677.2:g.50242403A>C | GRCh38 |
| NC_000015.9:g.50534600A>C , CM000677.1:g.50534600A>C | GRCh37 |
| NC_000015.8:g.48321892A>C | NCBI36 |
| NG_027487.1:g.28563T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1846T>G MANE Select | ENSP00000267845.3:p.Ser616Ala | |
| ENST00000267845.7:c.1846T>G | ENSP00000267845.3:p.Ser616Ala | |
| ENST00000543581.5:c.1747T>G | ENSP00000440252.1:p.Ser583Ala | |
| ENST00000559816.1:n.1590T>G | ||
| NM_001306146.1:c.1747T>G | NP_001293075.1:p.Ser583Ala | |
| NM_002112.3:c.1846T>G | NP_002103.2:p.Ser616Ala | |
| XM_011521479.1:c.1609T>G | XP_011519781.1:p.Ser537Ala | |
| XM_011521480.1:c.1414T>G | XP_011519782.1:p.Ser472Ala | |
| XM_017022094.1:c.1951T>G | XP_016877583.1:p.Ser651Ala | |
| XM_017022095.1:c.1852T>G | XP_016877584.1:p.Ser618Ala | |
| XM_017022096.1:c.1723T>G | XP_016877585.1:p.Ser575Ala | |
| XM_017022097.1:c.1714T>G | XP_016877586.1:p.Ser572Ala | |
| XM_017022098.1:c.1519T>G | XP_016877587.1:p.Ser507Ala | |
| NM_002112.4:c.1846T>G MANE Select | NP_002103.2:p.Ser616Ala | |
| NM_001306146.2:c.1747T>G | NP_001293075.1:p.Ser583Ala |