Linked Data
dbSNP Id:
rs1823780157
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86668120G>T , CM000670.2:g.86668120G>T | GRCh38 |
| NC_000008.10:g.87680348G>T , CM000670.1:g.87680348G>T | GRCh37 |
| NC_000008.9:g.87749464G>T | NCBI36 |
| NG_016980.1:g.80556C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.542C>A MANE Select | ENSP00000316605.5:p.Thr181Lys | |
| ENST00000681746.1:c.542C>A | ENSP00000505959.1:p.Thr181Lys | |
| ENST00000320005.5:c.542C>A | ENSP00000316605.5:p.Thr181Lys | |
| NM_019098.4:c.542C>A | NP_061971.3:p.Thr181Lys | |
| XM_011517138.1:c.128C>A | XP_011515440.1:p.Thr43Lys | |
| XM_011517138.2:c.128C>A | XP_011515440.1:p.Thr43Lys | |
| NM_019098.5:c.542C>A MANE Select | NP_061971.3:p.Thr181Lys |