Linked Data
ClinVar Variation Id:
461600
ClinVar RCV Id:
RCV000560292
dbSNP Id:
rs28933081
ExAC:
4:4861991 G / T
gnomAD v2:
4-4861991-G-T
gnomAD v3:
4-4860264-G-T
gnomAD v4:
4-4860264-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860264G>T , CM000666.2:g.4860264G>T | GRCh38 |
| NC_000004.11:g.4861991G>T , CM000666.1:g.4861991G>T | GRCh37 |
| NC_000004.10:g.4912892G>T | NCBI36 |
| NG_008121.1:g.5600G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.365G>T MANE Select | ENSP00000372170.4:p.Gly122Val | |
| ENST00000382723.4:c.365G>T | ENSP00000372170.4:p.Gly122Val | |
| NM_002448.3:c.365G>T MANE Select | NP_002439.2:p.Gly122Val |