Linked Data
ClinVar Variation Id:
2573212
ClinVar RCV Id:
RCV003316901
dbSNP Id:
rs1187270724
gnomAD v2:
12-103238185-C-T
gnomAD v3:
12-102844407-C-T
gnomAD v4:
12-102844407-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844407C>T , CM000674.2:g.102844407C>T | GRCh38 |
| NC_000012.11:g.103238185C>T , CM000674.1:g.103238185C>T | GRCh37 |
| NC_000012.10:g.101762315C>T | NCBI36 |
| NG_008690.1:g.78196G>A | |
| NG_008690.2:g.119004G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.994G>A MANE Select | ENSP00000448059.1:p.Gly332Arg | |
| ENST00000307000.7:c.979G>A | ENSP00000303500.2:p.Gly327Arg | |
| ENST00000549247.6:n.753G>A | ||
| ENST00000551114.2:n.656G>A | ||
| ENST00000553106.5:c.994G>A | ENSP00000448059.1:p.Gly332Arg | |
| ENST00000635477.1:c.98G>A | ||
| ENST00000635528.1:n.509G>A | ||
| NM_000277.1:c.994G>A | NP_000268.1:p.Gly332Arg | |
| XM_011538422.1:c.937G>A | XP_011536724.1:p.Gly313Arg | |
| NM_000277.2:c.994G>A | NP_000268.1:p.Gly332Arg | |
| NM_001354304.1:c.994G>A | NP_001341233.1:p.Gly332Arg | |
| NM_000277.3:c.994G>A MANE Select | NP_000268.1:p.Gly332Arg | |
| NM_001354304.2:c.994G>A | NP_001341233.1:p.Gly332Arg |