Linked Data
dbSNP Id:
rs985271639
gnomAD v2:
15-50534628-A-G
gnomAD v3:
15-50242431-A-G
gnomAD v4:
15-50242431-A-G
COSMIC:
COSM244872
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50242431A>G , CM000677.2:g.50242431A>G | GRCh38 |
| NC_000015.9:g.50534628A>G , CM000677.1:g.50534628A>G | GRCh37 |
| NC_000015.8:g.48321920A>G | NCBI36 |
| NG_027487.1:g.28535T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267845.8:c.1818T>C MANE Select | ENSP00000267845.3:p.Asn606= | |
| ENST00000267845.7:c.1818T>C | ENSP00000267845.3:p.Asn606= | |
| ENST00000543581.5:c.1719T>C | ENSP00000440252.1:p.Asn573= | |
| ENST00000559816.1:n.1562T>C | ||
| NM_001306146.1:c.1719T>C | NP_001293075.1:p.Asn573= | |
| NM_002112.3:c.1818T>C | NP_002103.2:p.Asn606= | |
| XM_011521479.1:c.1581T>C | XP_011519781.1:p.Asn527= | |
| XM_011521480.1:c.1386T>C | XP_011519782.1:p.Asn462= | |
| XM_017022094.1:c.1923T>C | XP_016877583.1:p.Asn641= | |
| XM_017022095.1:c.1824T>C | XP_016877584.1:p.Asn608= | |
| XM_017022096.1:c.1695T>C | XP_016877585.1:p.Asn565= | |
| XM_017022097.1:c.1686T>C | XP_016877586.1:p.Asn562= | |
| XM_017022098.1:c.1491T>C | XP_016877587.1:p.Asn497= | |
| NM_002112.4:c.1818T>C MANE Select | NP_002103.2:p.Asn606= | |
| NM_001306146.2:c.1719T>C | NP_001293075.1:p.Asn573= |