Linked Data
ClinVar Variation Id:
1136552
ClinVar RCV Id:
RCV001472221
dbSNP Id:
rs143211522
ExAC:
12:103249107 C / A
gnomAD v2:
12-103249107-C-A
gnomAD v3:
12-102855329-C-A
gnomAD v4:
12-102855329-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855329C>A , CM000674.2:g.102855329C>A | GRCh38 |
| NC_000012.11:g.103249107C>A , CM000674.1:g.103249107C>A | GRCh37 |
| NC_000012.10:g.101773237C>A | NCBI36 |
| NG_008690.1:g.67274G>T | |
| NG_008690.2:g.108082G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.513G>T MANE Select | ENSP00000448059.1:p.Gly171= | |
| ENST00000307000.7:c.498G>T | ENSP00000303500.2:p.Gly166= | |
| ENST00000549111.5:n.609G>T | ||
| ENST00000551988.5:n.534G>T | ||
| ENST00000553106.5:c.513G>T | ENSP00000448059.1:p.Gly171= | |
| NM_000277.1:c.513G>T | NP_000268.1:p.Gly171= | |
| XM_011538422.1:c.513G>T | XP_011536724.1:p.Gly171= | |
| NM_000277.2:c.513G>T | NP_000268.1:p.Gly171= | |
| NM_001354304.1:c.513G>T | NP_001341233.1:p.Gly171= | |
| XM_017019370.2:c.513G>T | XP_016874859.1:p.Gly171= | |
| NM_000277.3:c.513G>T MANE Select | NP_000268.1:p.Gly171= | |
| NM_001354304.2:c.513G>T | NP_001341233.1:p.Gly171= |