Linked Data
ClinVar Variation Id:
1133656
ClinVar RCV Id:
RCV001468290
dbSNP Id:
rs777221457
gnomAD v2:
12-103238180-G-C
gnomAD v4:
12-102844402-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844402G>C , CM000674.2:g.102844402G>C | GRCh38 |
| NC_000012.11:g.103238180G>C , CM000674.1:g.103238180G>C | GRCh37 |
| NC_000012.10:g.101762310G>C | NCBI36 |
| NG_008690.1:g.78201C>G | |
| NG_008690.2:g.119009C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.999C>G MANE Select | ENSP00000448059.1:p.Leu333= | |
| ENST00000307000.7:c.984C>G | ENSP00000303500.2:p.Leu328= | |
| ENST00000549247.6:n.758C>G | ||
| ENST00000551114.2:n.661C>G | ||
| ENST00000553106.5:c.999C>G | ENSP00000448059.1:p.Leu333= | |
| ENST00000635477.1:c.103C>G | ||
| ENST00000635528.1:n.514C>G | ||
| NM_000277.1:c.999C>G | NP_000268.1:p.Leu333= | |
| XM_011538422.1:c.942C>G | XP_011536724.1:p.Leu314= | |
| NM_000277.2:c.999C>G | NP_000268.1:p.Leu333= | |
| NM_001354304.1:c.999C>G | NP_001341233.1:p.Leu333= | |
| NM_000277.3:c.999C>G MANE Select | NP_000268.1:p.Leu333= | |
| NM_001354304.2:c.999C>G | NP_001341233.1:p.Leu333= |