Linked Data
ClinVar Variation Id:
1115952
ClinVar RCV Id:
RCV001444166
dbSNP Id:
rs1233192488
gnomAD v2:
12-103238138-G-A
gnomAD v4:
12-102844360-G-A
COSMIC:
COSM118066
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844360G>A , CM000674.2:g.102844360G>A | GRCh38 |
| NC_000012.11:g.103238138G>A , CM000674.1:g.103238138G>A | GRCh37 |
| NC_000012.10:g.101762268G>A | NCBI36 |
| NG_008690.1:g.78243C>T | |
| NG_008690.2:g.119051C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1041C>T MANE Select | ENSP00000448059.1:p.Leu347= | |
| ENST00000307000.7:c.1026C>T | ENSP00000303500.2:p.Leu342= | |
| ENST00000549247.6:n.800C>T | ||
| ENST00000551114.2:n.703C>T | ||
| ENST00000553106.5:c.1041C>T | ENSP00000448059.1:p.Leu347= | |
| ENST00000635477.1:c.145C>T | ||
| ENST00000635528.1:n.556C>T | ||
| NM_000277.1:c.1041C>T | NP_000268.1:p.Leu347= | |
| XM_011538422.1:c.984C>T | XP_011536724.1:p.Leu328= | |
| NM_000277.2:c.1041C>T | NP_000268.1:p.Leu347= | |
| NM_001354304.1:c.1041C>T | NP_001341233.1:p.Leu347= | |
| NM_000277.3:c.1041C>T MANE Select | NP_000268.1:p.Leu347= | |
| NM_001354304.2:c.1041C>T | NP_001341233.1:p.Leu347= |