Linked Data
ClinVar Variation Id:
40069
ClinVar RCV Id:
RCV000033159
dbSNP Id:
rs397514636
PubMed:
PMID:22499340
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103191565C>T , CM000673.2:g.103191565C>T | GRCh38 |
| NC_000011.9:g.103062294C>T , CM000673.1:g.103062294C>T | GRCh37 |
| NC_000011.8:g.102567504C>T | NCBI36 |
| NG_016423.1:g.87135C>T | |
| NG_016423.2:g.87135C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650373.2:c.7486C>T MANE Plus Clinical | ENSP00000497174.1:p.Pro2496Ser | |
| ENST00000375735.7:c.7486C>T MANE Select | ENSP00000364887.2:p.Pro2496Ser | |
| ENST00000649323.1:c.*5031C>T | ENSP00000497581.1:n.*5031C>T | |
| ENST00000650373.1:c.7486C>T | ENSP00000497174.1:p.Pro2496Ser | |
| ENST00000334267.11:c.2205+57146C>T | ENSP00000334021.7:n.2205+57146C>T | |
| ENST00000375735.6:c.7486C>T | ENSP00000364887.2:p.Pro2496Ser | |
| ENST00000398093.7:c.7486C>T | ENSP00000381167.3:p.Pro2496Ser | |
| NM_001080463.1:c.7486C>T | NP_001073932.1:p.Pro2496Ser | |
| NM_001377.2:c.7486C>T | NP_001368.2:p.Pro2496Ser | |
| XM_006718903.2:c.7486C>T | XP_006718966.1:p.Pro2496Ser | |
| XM_017018291.1:c.7486C>T | XP_016873780.1:p.Pro2496Ser | |
| XM_017018292.1:c.6868C>T | XP_016873781.1:p.Pro2290Ser | |
| XM_017018293.1:c.7438-532C>T | XP_016873782.1:n.7438-532C>T | |
| NM_001377.3:c.7486C>T MANE Select | NP_001368.2:p.Pro2496Ser | |
| NM_001080463.2:c.7486C>T MANE Plus Clinical | NP_001073932.1:p.Pro2496Ser |