Linked Data
dbSNP Id:
rs782293212
ExAC:
X:49074457 A / G
gnomAD v2:
X-49074457-A-G
gnomAD v3:
X-49217998-A-G
gnomAD v4:
X-49217998-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49217998A>G , CM000685.2:g.49217998A>G | GRCh38 |
| NC_000023.10:g.49074457A>G , CM000685.1:g.49074457A>G | GRCh37 |
| NC_000023.9:g.48961401A>G | NCBI36 |
| NG_009095.2:g.20369T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.2936T>C MANE Select | ENSP00000321618.6:p.Val979Ala | |
| ENST00000323022.9:c.2936T>C | ENSP00000321618.5:p.Val979Ala | |
| ENST00000376251.5:c.2774T>C | ENSP00000365427.1:p.Val925Ala | |
| ENST00000376265.2:c.2969T>C | ENSP00000365441.2:p.Val990Ala | |
| NM_001256789.2:c.2936T>C | NP_001243718.1:p.Val979Ala | |
| NM_001256790.2:c.2774T>C | NP_001243719.1:p.Val925Ala | |
| NM_005183.3:c.2969T>C | NP_005174.2:p.Val990Ala | |
| XM_011543983.1:c.2774T>C | XP_011542285.1:p.Val925Ala | |
| XM_011543983.2:c.2774T>C | XP_011542285.1:p.Val925Ala | |
| XM_017029836.1:c.203T>C | XP_016885325.1:p.Val68Ala | |
| NM_001256789.3:c.2936T>C MANE Select | NP_001243718.1:p.Val979Ala | |
| NM_001256790.3:c.2774T>C | NP_001243719.1:p.Val925Ala | |
| NM_005183.4:c.2969T>C | NP_005174.2:p.Val990Ala |