Linked Data
ClinVar Variation Id:
4462
ClinVar RCV Id:
RCV000004717
RCV000255788
RCV000278695
RCV000445356
RCV000455454
RCV000550721
RCV000622932
RCV000754840
RCV000845113
RCV001535660
RCV001729336
RCV001813948
RCV002227016
RCV002464974
dbSNP Id:
rs121908120
ExAC:
2:219755011 T / A
gnomAD v2:
2-219755011-T-A
gnomAD v3:
2-218890289-T-A
gnomAD v4:
2-218890289-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218890289T>A , CM000664.2:g.218890289T>A | GRCh38 |
| NC_000002.11:g.219755011T>A , CM000664.1:g.219755011T>A | GRCh37 |
| NC_000002.10:g.219463255T>A | NCBI36 |
| NG_012179.1:g.14757T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258411.8:c.682T>A MANE Select | ENSP00000258411.3:p.Phe228Ile | |
| ENST00000258411.7:c.682T>A | ENSP00000258411.3:p.Phe228Ile | |
| ENST00000458582.1:c.264-2485T>A | ||
| NM_025216.2:c.682T>A | NP_079492.2:p.Phe228Ile | |
| XM_011511928.1:c.631T>A | XP_011510230.1:p.Phe211Ile | |
| XM_011511929.1:c.586T>A | XP_011510231.1:p.Phe196Ile | |
| XM_011511930.1:c.377-2485T>A | XP_011510232.1:n.377-2485T>A | |
| XM_011511929.2:c.586T>A | XP_011510231.1:p.Phe196Ile | |
| NM_025216.3:c.682T>A MANE Select | NP_079492.2:p.Phe228Ile |