Linked Data
ClinVar Variation Id:
458155
dbSNP Id:
rs752897010
ExAC:
13:49050969 G / A
gnomAD v2:
13-49050969-G-A
gnomAD v4:
13-48476833-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48476833G>A , CM000675.2:g.48476833G>A | GRCh38 |
| NC_000013.10:g.49050969G>A , CM000675.1:g.49050969G>A | GRCh37 |
| NC_000013.9:g.47948970G>A | NCBI36 |
| NG_009009.1:g.178087G>A , LRG_517:g.178087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.2653G>A MANE Select | ENSP00000267163.4:p.Ala885Thr | |
| ENST00000643064.1:c.194+95390G>A | ||
| ENST00000650461.1:c.2653G>A | ENSP00000497193.1:p.Ala885Thr | |
| ENST00000267163.4:c.2653G>A | ENSP00000267163.4:p.Ala885Thr | |
| ENST00000484879.1:n.387G>A | ||
| ENST00000531171.5:n.256G>A | ||
| NM_000321.2:c.2653G>A , LRG_517t1:c.2653G>A | NP_000312.2:p.Ala885Thr | |
| XM_011535171.1:c.2392G>A | XP_011533473.1:p.Ala798Thr | |
| XM_011535171.2:c.2392G>A | XP_011533473.1:p.Ala798Thr | |
| NM_000321.3:c.2653G>A MANE Select | NP_000312.2:p.Ala885Thr |