Linked Data
ClinVar Variation Id:
102726
dbSNP Id:
rs199475602
ExAC:
12:103249091 C / T
gnomAD v2:
12-103249091-C-T
gnomAD v3:
12-102855313-C-T
gnomAD v4:
12-102855313-C-T
ERepo:
CA229609/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855313C>T , CM000674.2:g.102855313C>T | GRCh38 |
| NC_000012.11:g.103249091C>T , CM000674.1:g.103249091C>T | GRCh37 |
| NC_000012.10:g.101773221C>T | NCBI36 |
| NG_008690.1:g.67290G>A | |
| NG_008690.2:g.108098G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.529G>A MANE Select | ENSP00000448059.1:p.Val177Met | |
| ENST00000307000.7:c.514G>A | ENSP00000303500.2:p.Val172Met | |
| ENST00000549111.5:n.625G>A | ||
| ENST00000551988.5:n.550G>A | ||
| ENST00000553106.5:c.529G>A | ENSP00000448059.1:p.Val177Met | |
| NM_000277.1:c.529G>A | NP_000268.1:p.Val177Met | |
| XM_011538422.1:c.529G>A | XP_011536724.1:p.Val177Met | |
| NM_000277.2:c.529G>A | NP_000268.1:p.Val177Met | |
| NM_001354304.1:c.529G>A | NP_001341233.1:p.Val177Met | |
| XM_017019370.2:c.529G>A | XP_016874859.1:p.Val177Met | |
| NM_000277.3:c.529G>A MANE Select | NP_000268.1:p.Val177Met | |
| NM_001354304.2:c.529G>A | NP_001341233.1:p.Val177Met |