Linked Data
dbSNP Id:
rs750381415
ExAC:
17:29325834 G / A
gnomAD v2:
17-29325834-G-A
gnomAD v3:
17-30998816-G-A
gnomAD v4:
17-30998816-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30998816G>A , CM000679.2:g.30998816G>A | GRCh38 |
| NC_000017.10:g.29325834G>A , CM000679.1:g.29325834G>A | GRCh37 |
| NC_000017.9:g.26349960G>A | NCBI36 |
| NG_011701.1:g.32879G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328381.10:c.924G>A MANE Select | ENSP00000328340.5:p.Leu308= | |
| ENST00000324689.8:c.*128G>A | ENSP00000323693.4:n.*128G>A | |
| ENST00000328381.9:c.924G>A | ENSP00000328340.5:p.Leu308= | |
| ENST00000443677.6:c.*128G>A | ENSP00000411965.2:n.*128G>A | |
| ENST00000535306.6:c.*128G>A | ENSP00000440470.2:n.*128G>A | |
| NM_001184992.1:c.*128G>A | NP_001171921.1:n.*128G>A | |
| NM_032322.3:c.924G>A | NP_115698.3:p.Leu308= | |
| NM_197939.1:c.*128G>A | NP_922921.1:n.*128G>A | |
| XM_005258043.3:c.381G>A | XP_005258100.1:p.Leu127= | |
| XM_006722138.2:c.603G>A | XP_006722201.1:p.Leu201= | |
| XM_017025223.1:c.381G>A | XP_016880712.1:p.Leu127= | |
| XM_024451000.1:c.381G>A | XP_024306768.1:p.Leu127= | |
| XM_024451001.1:c.381G>A | XP_024306769.1:p.Leu127= | |
| XR_002958077.1:n.1192G>A | ||
| NM_032322.4:c.924G>A MANE Select | NP_115698.3:p.Leu308= | |
| NM_001184992.2:c.*128G>A | NP_001171921.1:n.*128G>A | |
| NM_197939.2:c.*128G>A | NP_922921.1:n.*128G>A |