Linked Data
ClinVar Variation Id:
2152159
ClinVar RCV Id:
RCV003079148
dbSNP Id:
rs62508722
ExAC:
12:103246608 A / G
gnomAD v2:
12-103246608-A-G
gnomAD v3:
12-102852830-A-G
gnomAD v4:
12-102852830-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852830A>G , CM000674.2:g.102852830A>G | GRCh38 |
| NC_000012.11:g.103246608A>G , CM000674.1:g.103246608A>G | GRCh37 |
| NC_000012.10:g.101770738A>G | NCBI36 |
| NG_008690.1:g.69773T>C | |
| NG_008690.2:g.110581T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.827T>C MANE Select | ENSP00000448059.1:p.Met276Thr | |
| ENST00000307000.7:c.812T>C | ENSP00000303500.2:p.Met271Thr | |
| ENST00000549247.6:n.586T>C | ||
| ENST00000553106.5:c.827T>C | ENSP00000448059.1:p.Met276Thr | |
| NM_000277.1:c.827T>C | NP_000268.1:p.Met276Thr | |
| XM_011538422.1:c.827T>C | XP_011536724.1:p.Met276Thr | |
| NM_000277.2:c.827T>C | NP_000268.1:p.Met276Thr | |
| NM_001354304.1:c.827T>C | NP_001341233.1:p.Met276Thr | |
| NM_000277.3:c.827T>C MANE Select | NP_000268.1:p.Met276Thr | |
| NM_001354304.2:c.827T>C | NP_001341233.1:p.Met276Thr |