Linked Data
ClinVar Variation Id:
203873
dbSNP Id:
rs62508575
ExAC:
12:103310907 A / G
gnomAD v2:
12-103310907-A-G
gnomAD v3:
12-102917129-A-G
gnomAD v4:
12-102917129-A-G
ERepo:
CA312807/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917129A>G , CM000674.2:g.102917129A>G | GRCh38 |
| NC_000012.11:g.103310907A>G , CM000674.1:g.103310907A>G | GRCh37 |
| NC_000012.10:g.101835037A>G | NCBI36 |
| NG_008690.1:g.5474T>C | |
| NG_008690.2:g.46282T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.2T>C MANE Select | ENSP00000448059.1:p.Met1Thr | |
| ENST00000307000.7:c.-146T>C | ENSP00000303500.2:n.-146T>C | |
| ENST00000546844.1:c.2T>C | ENSP00000446658.1:p.Met1Thr | |
| ENST00000547319.1:n.313T>C | ||
| ENST00000549111.5:n.98T>C | ||
| ENST00000551337.5:c.2T>C | ENSP00000447620.1:p.Met1Thr | |
| ENST00000551988.5:n.91T>C | ||
| ENST00000553106.5:c.2T>C | ENSP00000448059.1:p.Met1Thr | |
| ENST00000635500.1:n.29-4231T>C | ||
| NM_000277.1:c.2T>C | NP_000268.1:p.Met1Thr | |
| XM_011538422.1:c.2T>C | XP_011536724.1:p.Met1Thr | |
| NM_000277.2:c.2T>C | NP_000268.1:p.Met1Thr | |
| NM_001354304.1:c.2T>C | NP_001341233.1:p.Met1Thr | |
| XM_017019370.2:c.2T>C | XP_016874859.1:p.Met1Thr | |
| NM_000277.3:c.2T>C MANE Select | NP_000268.1:p.Met1Thr | |
| NM_001354304.2:c.2T>C | NP_001341233.1:p.Met1Thr |