Linked Data
ClinVar Variation Id:
334399
ClinVar RCV Id:
RCV000283655
RCV000346906
RCV000845116
RCV000521785
RCV004530358
RCV000406139
RCV001083663
dbSNP Id:
rs77583146
ExAC:
2:219754822 G / A
gnomAD v2:
2-219754822-G-A
gnomAD v3:
2-218890100-G-A
gnomAD v4:
2-218890100-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218890100G>A , CM000664.2:g.218890100G>A | GRCh38 |
| NC_000002.11:g.219754822G>A , CM000664.1:g.219754822G>A | GRCh37 |
| NC_000002.10:g.219463066G>A | NCBI36 |
| NG_012179.1:g.14568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.493G>A MANE Select | ENSP00000258411.3:p.Gly165Arg | |
| ENST00000258411.7:c.493G>A | ENSP00000258411.3:p.Gly165Arg | |
| ENST00000458582.1:c.264-2674G>A | ||
| NM_025216.2:c.493G>A | NP_079492.2:p.Gly165Arg | |
| XM_011511928.1:c.442G>A | XP_011510230.1:p.Gly148Arg | |
| XM_011511929.1:c.397G>A | XP_011510231.1:p.Gly133Arg | |
| XM_011511930.1:c.377-2674G>A | XP_011510232.1:n.377-2674G>A | |
| XM_011511929.2:c.397G>A | XP_011510231.1:p.Gly133Arg | |
| NM_025216.3:c.493G>A MANE Select | NP_079492.2:p.Gly165Arg |