Linked Data
dbSNP Id:
rs1593437973
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348979C>A , CM000675.2:g.48348979C>A | GRCh38 |
| NC_000013.10:g.48923115C>A , CM000675.1:g.48923115C>A | GRCh37 |
| NC_000013.9:g.47821116C>A | NCBI36 |
| NG_009009.1:g.50233C>A , LRG_517:g.50233C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.563C>A MANE Select | ENSP00000267163.4:p.Ala188Glu | |
| ENST00000650461.1:c.563C>A | ENSP00000497193.1:p.Ala188Glu | |
| ENST00000267163.4:c.563C>A | ENSP00000267163.4:p.Ala188Glu | |
| ENST00000467505.5:c.138-11038C>A | ENSP00000434702.1:n.138-11038C>A | |
| ENST00000525036.1:n.725C>A | ||
| NM_000321.2:c.563C>A , LRG_517t1:c.563C>A | NP_000312.2:p.Ala188Glu | |
| XM_011535171.1:c.302C>A | XP_011533473.1:p.Ala101Glu | |
| XM_011535171.2:c.302C>A | XP_011533473.1:p.Ala101Glu | |
| NM_000321.3:c.563C>A MANE Select | NP_000312.2:p.Ala188Glu |