Linked Data
ClinVar Variation Id:
92727
dbSNP Id:
rs62516092
ExAC:
12:103238137 G / C
gnomAD v2:
12-103238137-G-C
gnomAD v3:
12-102844359-G-C
gnomAD v4:
12-102844359-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844359G>C , CM000674.2:g.102844359G>C | GRCh38 |
| NC_000012.11:g.103238137G>C , CM000674.1:g.103238137G>C | GRCh37 |
| NC_000012.10:g.101762267G>C | NCBI36 |
| NG_008690.1:g.78244C>G | |
| NG_008690.2:g.119052C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1042C>G MANE Select | ENSP00000448059.1:p.Leu348Val | |
| ENST00000307000.7:c.1027C>G | ENSP00000303500.2:p.Leu343Val | |
| ENST00000549247.6:n.801C>G | ||
| ENST00000551114.2:n.704C>G | ||
| ENST00000553106.5:c.1042C>G | ENSP00000448059.1:p.Leu348Val | |
| ENST00000635477.1:c.146C>G | ||
| ENST00000635528.1:n.557C>G | ||
| NM_000277.1:c.1042C>G | NP_000268.1:p.Leu348Val | |
| XM_011538422.1:c.985C>G | XP_011536724.1:p.Leu329Val | |
| NM_000277.2:c.1042C>G | NP_000268.1:p.Leu348Val | |
| NM_001354304.1:c.1042C>G | NP_001341233.1:p.Leu348Val | |
| NM_000277.3:c.1042C>G MANE Select | NP_000268.1:p.Leu348Val | |
| NM_001354304.2:c.1042C>G | NP_001341233.1:p.Leu348Val |