Linked Data
ClinVar Variation Id:
541003
dbSNP Id:
rs142117467
ExAC:
5:147788749 C / A
gnomAD v2:
5-147788749-C-A
gnomAD v3:
5-148409186-C-A
gnomAD v4:
5-148409186-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148409186C>A , CM000667.2:g.148409186C>A | GRCh38 |
| NC_000005.9:g.147788749C>A , CM000667.1:g.147788749C>A | GRCh37 |
| NC_000005.8:g.147768942C>A | NCBI36 |
| NG_033871.1:g.30252C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340253.10:c.931C>A MANE Select | ENSP00000342023.6:p.Leu311Ile | |
| ENST00000296701.10:c.931C>A | ENSP00000296701.6:p.Leu311Ile | |
| ENST00000340253.9:c.931C>A | ENSP00000342023.5:p.Leu311Ile | |
| ENST00000394370.7:c.931C>A | ENSP00000377895.3:p.Leu311Ile | |
| ENST00000502571.1:n.340C>A | ||
| ENST00000509699.6:n.996C>A | ||
| ENST00000511080.5:n.222-6742C>A | ||
| ENST00000513826.1:c.931C>A | ENSP00000426410.1:p.Leu311Ile | |
| NM_001271723.1:c.931C>A | NP_001258652.1:p.Leu311Ile | |
| NM_030793.4:c.931C>A | NP_110420.3:p.Leu311Ile | |
| XM_005268513.1:c.931C>A | XP_005268570.1:p.Leu311Ile | |
| XM_006714797.1:c.931C>A | XP_006714860.1:p.Leu311Ile | |
| NM_205836.2:c.931C>A | NP_995308.1:p.Leu311Ile | |
| XM_006714797.2:c.931C>A | XP_006714860.1:p.Leu311Ile | |
| XM_011537684.3:c.-417C>A | XP_011535986.1:n.-417C>A | |
| XM_017009899.1:c.-327C>A | XP_016865388.1:n.-327C>A | |
| XM_017009900.2:c.-576C>A | XP_016865389.1:n.-576C>A | |
| XM_017009901.2:c.-327C>A | XP_016865390.1:n.-327C>A | |
| XM_017009902.2:c.-417C>A | XP_016865391.1:n.-417C>A | |
| XM_024446223.1:c.931C>A | XP_024301991.1:p.Leu311Ile | |
| XR_001742284.1:n.1077C>A | ||
| NM_030793.5:c.931C>A | NP_110420.3:p.Leu311Ile | |
| NM_205836.3:c.931C>A MANE Select | NP_995308.1:p.Leu311Ile | |
| NM_001271723.2:c.931C>A | NP_001258652.1:p.Leu311Ile |