Linked Data
ClinVar Variation Id:
2421739
ClinVar RCV Id:
RCV003116040
dbSNP Id:
rs1162831467
gnomAD v2:
12-103234235-T-C
gnomAD v3:
12-102840457-T-C
gnomAD v4:
12-102840457-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840457T>C , CM000674.2:g.102840457T>C | GRCh38 |
| NC_000012.11:g.103234235T>C , CM000674.1:g.103234235T>C | GRCh37 |
| NC_000012.10:g.101758365T>C | NCBI36 |
| NG_008690.1:g.82146A>G | |
| NG_008690.2:g.122954A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1258A>G MANE Select | ENSP00000448059.1:p.Arg420Gly | |
| ENST00000307000.7:c.1243A>G | ENSP00000303500.2:p.Arg415Gly | |
| ENST00000551114.2:n.920A>G | ||
| ENST00000553106.5:c.1258A>G | ENSP00000448059.1:p.Arg420Gly | |
| ENST00000635477.1:c.362A>G | ||
| ENST00000635528.1:n.773A>G | ||
| NM_000277.1:c.1258A>G | NP_000268.1:p.Arg420Gly | |
| XM_011538422.1:c.1201A>G | XP_011536724.1:p.Arg401Gly | |
| NM_000277.2:c.1258A>G | NP_000268.1:p.Arg420Gly | |
| NM_001354304.1:c.1258A>G | NP_001341233.1:p.Arg420Gly | |
| NM_000277.3:c.1258A>G MANE Select | NP_000268.1:p.Arg420Gly | |
| NM_001354304.2:c.1258A>G | NP_001341233.1:p.Arg420Gly |