Linked Data
ClinVar Variation Id:
1517079
ClinVar RCV Id:
RCV002040999
dbSNP Id:
rs1397641277
gnomAD v2:
1-2339902-C-T
gnomAD v4:
1-2408463-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2408463C>T , CM000663.2:g.2408463C>T | GRCh38 |
| NC_000001.10:g.2339902C>T , CM000663.1:g.2339902C>T | GRCh37 |
| NC_000001.9:g.2329762C>T | NCBI36 |
| NG_008342.1:g.9109G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288774.8:c.589G>A | ENSP00000288774.3:p.Gly197Arg | |
| ENST00000447513.7:c.589G>A MANE Select | ENSP00000407922.2:p.Gly197Arg | |
| ENST00000650293.1:c.543G>A | ||
| ENST00000288774.7:c.589G>A | ENSP00000288774.3:p.Gly197Arg | |
| ENST00000447513.6:c.589G>A | ENSP00000407922.2:p.Gly197Arg | |
| ENST00000507596.5:c.589G>A | ENSP00000424291.1:p.Gly197Arg | |
| ENST00000510434.1:c.589G>A | ENSP00000423051.1:p.Gly197Arg | |
| NM_002617.3:c.589G>A | NP_002608.1:p.Gly197Arg | |
| NM_153818.1:c.589G>A | NP_722540.1:p.Gly197Arg | |
| XM_011541573.1:c.589G>A | XP_011539875.1:p.Gly197Arg | |
| XM_011541574.1:c.157G>A | XP_011539876.1:p.Gly53Arg | |
| XM_011541575.1:c.157G>A | XP_011539877.1:p.Gly53Arg | |
| XM_011541576.1:c.589G>A | XP_011539878.1:p.Gly197Arg | |
| XR_946666.1:n.709G>A | ||
| XM_011541576.2:c.589G>A | XP_011539878.1:p.Gly197Arg | |
| XR_946666.2:n.658G>A | ||
| NM_001374425.1:c.589G>A | NP_001361354.1:p.Gly197Arg | |
| NM_001374426.1:c.157G>A | NP_001361355.1:p.Gly53Arg | |
| NM_001374427.1:c.157G>A | NP_001361356.1:p.Gly53Arg | |
| NM_002617.4:c.589G>A MANE Select | NP_002608.1:p.Gly197Arg | |
| NM_153818.2:c.589G>A | NP_722540.1:p.Gly197Arg | |
| NR_164636.1:n.708G>A |