Linked Data
ClinVar Variation Id:
571115
dbSNP Id:
rs1189153218
gnomAD v2:
13-48923114-G-A
gnomAD v4:
13-48348978-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348978G>A , CM000675.2:g.48348978G>A | GRCh38 |
| NC_000013.10:g.48923114G>A , CM000675.1:g.48923114G>A | GRCh37 |
| NC_000013.9:g.47821115G>A | NCBI36 |
| NG_009009.1:g.50232G>A , LRG_517:g.50232G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.562G>A MANE Select | ENSP00000267163.4:p.Ala188Thr | |
| ENST00000650461.1:c.562G>A | ENSP00000497193.1:p.Ala188Thr | |
| ENST00000267163.4:c.562G>A | ENSP00000267163.4:p.Ala188Thr | |
| ENST00000467505.5:c.138-11039G>A | ENSP00000434702.1:n.138-11039G>A | |
| ENST00000525036.1:n.724G>A | ||
| NM_000321.2:c.562G>A , LRG_517t1:c.562G>A | NP_000312.2:p.Ala188Thr | |
| XM_011535171.1:c.301G>A | XP_011533473.1:p.Ala101Thr | |
| XM_011535171.2:c.301G>A | XP_011533473.1:p.Ala101Thr | |
| NM_000321.3:c.562G>A MANE Select | NP_000312.2:p.Ala188Thr |