Linked Data
dbSNP Id:
rs2138093468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348967A>T , CM000675.2:g.48348967A>T | GRCh38 |
| NC_000013.10:g.48923103A>T , CM000675.1:g.48923103A>T | GRCh37 |
| NC_000013.9:g.47821104A>T | NCBI36 |
| NG_009009.1:g.50221A>T , LRG_517:g.50221A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.551A>T MANE Select | ENSP00000267163.4:p.Glu184Val | |
| ENST00000650461.1:c.551A>T | ENSP00000497193.1:p.Glu184Val | |
| ENST00000267163.4:c.551A>T | ENSP00000267163.4:p.Glu184Val | |
| ENST00000467505.5:c.138-11050A>T | ENSP00000434702.1:n.138-11050A>T | |
| ENST00000525036.1:n.713A>T | ||
| NM_000321.2:c.551A>T , LRG_517t1:c.551A>T | NP_000312.2:p.Glu184Val | |
| XM_011535171.1:c.290A>T | XP_011533473.1:p.Glu97Val | |
| XM_011535171.2:c.290A>T | XP_011533473.1:p.Glu97Val | |
| NM_000321.3:c.551A>T MANE Select | NP_000312.2:p.Glu184Val |