Linked Data
dbSNP Id:
rs761861061
ExAC:
2:219757899 C / A
gnomAD v2:
2-219757899-C-A
gnomAD v3:
2-218893177-C-A
gnomAD v4:
2-218893177-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893177C>A , CM000664.2:g.218893177C>A | GRCh38 |
| NC_000002.11:g.219757899C>A , CM000664.1:g.219757899C>A | GRCh37 |
| NC_000002.10:g.219466143C>A | NCBI36 |
| NG_012179.1:g.17645C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.1160C>A MANE Select | ENSP00000258411.3:p.Thr387Lys | |
| ENST00000258411.7:c.1160C>A | ENSP00000258411.3:p.Thr387Lys | |
| NM_025216.2:c.1160C>A | NP_079492.2:p.Thr387Lys | |
| XM_011511928.1:c.1109C>A | XP_011510230.1:p.Thr370Lys | |
| XM_011511929.1:c.1064C>A | XP_011510231.1:p.Thr355Lys | |
| XM_011511930.1:c.780C>A | XP_011510232.1:p.Asp260Glu | |
| XM_011511929.2:c.1064C>A | XP_011510231.1:p.Thr355Lys | |
| NM_025216.3:c.1160C>A MANE Select | NP_079492.2:p.Thr387Lys |