Linked Data
ClinVar Variation Id:
2126412
ClinVar RCV Id:
RCV003044112
dbSNP Id:
rs1969779539
gnomAD v4:
19-35733129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35733129G>A , CM000681.2:g.35733129G>A | GRCh38 |
| NC_000019.9:g.36224030G>A , CM000681.1:g.36224030G>A | GRCh37 |
| NC_000019.8:g.40915870G>A | NCBI36 |
| NG_052906.1:g.20111G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.886G>A | ||
| ENST00000673918.2:c.6514G>A | ENSP00000501283.1:p.Val2172Ile | |
| ENST00000674114.2:c.4121G>A | ENSP00000501039.2:n.4121G>A | |
| ENST00000684977.1:c.1798G>A | ENSP00000509384.1:p.Val600Ile | |
| ENST00000689544.1:n.1733G>A | ||
| ENST00000691421.1:c.1801G>A | ENSP00000508674.1:p.Val601Ile | |
| ENST00000691855.1:c.6122G>A | ||
| ENST00000692961.1:c.6580G>A | ENSP00000509289.1:p.Val2194Ile | |
| ENST00000693677.1:c.705-468G>A | ENSP00000509779.1:n.705-468G>A | |
| ENST00000420124.4:c.6580G>A MANE Select | ENSP00000398837.2:p.Val2194Ile | |
| ENST00000673918.1:c.6514G>A | ENSP00000501283.1:p.Val2172Ile | |
| ENST00000674114.1:c.3902G>A | ||
| ENST00000420124.2:c.6580G>A | ENSP00000398837.1:p.Val2194Ile | |
| NM_014727.2:c.6580G>A | NP_055542.1:p.Val2194Ile | |
| XM_011527561.1:c.6514G>A | XP_011525863.1:p.Val2172Ile | |
| XM_011527562.1:c.6580G>A | XP_011525864.1:p.Val2194Ile | |
| XM_011527563.1:c.6304G>A | XP_011525865.1:p.Val2102Ile | |
| XM_011527561.2:c.6016G>A | XP_011525863.2:p.Val2006Ile | |
| XM_011527562.2:c.6580G>A | XP_011525864.1:p.Val2194Ile | |
| XM_017027544.1:c.6580G>A | XP_016883033.1:p.Val2194Ile | |
| XM_017027545.1:c.6016G>A | XP_016883034.1:p.Val2006Ile | |
| XM_017027546.1:c.3544G>A | XP_016883035.1:p.Val1182Ile | |
| NM_014727.3:c.6580G>A MANE Select | NP_055542.1:p.Val2194Ile |