Linked Data
ClinVar Variation Id:
427218
ClinVar RCV Id:
RCV000490252
dbSNP Id:
rs1085308031
gnomAD v4:
2-218893264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218893264G>A , CM000664.2:g.218893264G>A | GRCh38 |
| NC_000002.11:g.219757986G>A , CM000664.1:g.219757986G>A | GRCh37 |
| NC_000002.10:g.219466230G>A | NCBI36 |
| NG_012179.1:g.17732G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258411.8:c.1247G>A MANE Select | ENSP00000258411.3:p.Cys416Tyr | |
| ENST00000258411.7:c.1247G>A | ENSP00000258411.3:p.Cys416Tyr | |
| ENST00000489887.1:n.44G>A | ||
| NM_025216.2:c.1247G>A | NP_079492.2:p.Cys416Tyr | |
| XM_011511928.1:c.1196G>A | XP_011510230.1:p.Cys399Tyr | |
| XM_011511929.1:c.1151G>A | XP_011510231.1:p.Cys384Tyr | |
| XM_011511930.1:c.867G>A | XP_011510232.1:p.Leu289= | |
| XM_011511929.2:c.1151G>A | XP_011510231.1:p.Cys384Tyr | |
| NM_025216.3:c.1247G>A MANE Select | NP_079492.2:p.Cys416Tyr |