Linked Data
ClinVar Variation Id:
410919
dbSNP Id:
rs770100636
ExAC:
13:48934158 G / A
gnomAD v2:
13-48934158-G-A
gnomAD v3:
13-48360022-G-A
gnomAD v4:
13-48360022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48360022G>A , CM000675.2:g.48360022G>A | GRCh38 |
| NC_000013.10:g.48934158G>A , CM000675.1:g.48934158G>A | GRCh37 |
| NC_000013.9:g.47832159G>A | NCBI36 |
| NG_009009.1:g.61276G>A , LRG_517:g.61276G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.613G>A MANE Select | ENSP00000267163.4:p.Val205Ile | |
| ENST00000650461.1:c.613G>A | ENSP00000497193.1:p.Val205Ile | |
| ENST00000267163.4:c.613G>A | ENSP00000267163.4:p.Val205Ile | |
| ENST00000467505.5:c.143G>A | ENSP00000434702.1:p.Ser48Asn | |
| ENST00000525036.1:n.775G>A | ||
| NM_000321.2:c.613G>A , LRG_517t1:c.613G>A | NP_000312.2:p.Val205Ile | |
| XM_011535171.1:c.352G>A | XP_011533473.1:p.Val118Ile | |
| XM_011535171.2:c.352G>A | XP_011533473.1:p.Val118Ile | |
| NM_000321.3:c.613G>A MANE Select | NP_000312.2:p.Val205Ile |