Linked Data
ClinVar Variation Id:
287511
dbSNP Id:
rs139031154
ExAC:
9:133370384 G / A
gnomAD v2:
9-133370384-G-A
gnomAD v3:
9-130494997-G-A
gnomAD v4:
9-130494997-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130494997G>A , CM000671.2:g.130494997G>A | GRCh38 |
| NC_000009.11:g.133370384G>A , CM000671.1:g.133370384G>A | GRCh37 |
| NC_000009.10:g.132360205G>A | NCBI36 |
| NG_011542.1:g.55291G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.1101G>A MANE Select | ENSP00000253004.6:p.Leu367= | |
| ENST00000352480.9:c.1101G>A | ENSP00000253004.6:p.Leu367= | |
| ENST00000372386.6:n.372G>A | ||
| ENST00000372393.7:c.1101G>A | ENSP00000361469.2:p.Leu367= | |
| ENST00000372394.5:c.1101G>A | ENSP00000361471.1:p.Leu367= | |
| NM_000050.4:c.1101G>A | NP_000041.2:p.Leu367= | |
| NM_054012.3:c.1101G>A | NP_446464.1:p.Leu367= | |
| XM_005272200.2:c.1101G>A | XP_005272257.1:p.Leu367= | |
| XM_011518705.1:c.1215G>A | XP_011517007.1:p.Leu405= | |
| XR_930393.1:n.1060-2740C>T | ||
| XM_005272200.3:c.1101G>A | XP_005272257.1:p.Leu367= | |
| XM_011518705.2:c.1215G>A | XP_011517007.1:p.Leu405= | |
| XM_017014729.1:c.1197G>A | XP_016870218.1:p.Leu399= | |
| XR_930393.2:n.1102-2740C>T | ||
| NM_054012.4:c.1101G>A MANE Select | NP_446464.1:p.Leu367= |