Linked Data
ClinVar Variation Id:
102727
dbSNP Id:
rs199475602
ExAC:
12:103249091 C / G
gnomAD v2:
12-103249091-C-G
gnomAD v3:
12-102855313-C-G
gnomAD v4:
12-102855313-C-G
ERepo:
CA229610/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855313C>G , CM000674.2:g.102855313C>G | GRCh38 |
| NC_000012.11:g.103249091C>G , CM000674.1:g.103249091C>G | GRCh37 |
| NC_000012.10:g.101773221C>G | NCBI36 |
| NG_008690.1:g.67290G>C | |
| NG_008690.2:g.108098G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.529G>C MANE Select | ENSP00000448059.1:p.Val177Leu | |
| ENST00000307000.7:c.514G>C | ENSP00000303500.2:p.Val172Leu | |
| ENST00000549111.5:n.625G>C | ||
| ENST00000551988.5:n.550G>C | ||
| ENST00000553106.5:c.529G>C | ENSP00000448059.1:p.Val177Leu | |
| NM_000277.1:c.529G>C | NP_000268.1:p.Val177Leu | |
| XM_011538422.1:c.529G>C | XP_011536724.1:p.Val177Leu | |
| NM_000277.2:c.529G>C | NP_000268.1:p.Val177Leu | |
| NM_001354304.1:c.529G>C | NP_001341233.1:p.Val177Leu | |
| XM_017019370.2:c.529G>C | XP_016874859.1:p.Val177Leu | |
| NM_000277.3:c.529G>C MANE Select | NP_000268.1:p.Val177Leu | |
| NM_001354304.2:c.529G>C | NP_001341233.1:p.Val177Leu |