Linked Data
ClinVar Variation Id:
130712
dbSNP Id:
rs2242105
ExAC:
9:2643179 C / T
gnomAD v2:
9-2643179-C-T
gnomAD v3:
9-2643179-C-T
gnomAD v4:
9-2643179-C-T
COSMIC:
COSM3982812
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2643179C>T , CM000671.2:g.2643179C>T | GRCh38 |
| NC_000009.11:g.2643179C>T , CM000671.1:g.2643179C>T | GRCh37 |
| NC_000009.10:g.2633179C>T | NCBI36 |
| NG_012741.1:g.26387C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382099.3:c.20C>T | ||
| ENST00000382100.8:c.468C>T MANE Select | ENSP00000371532.2:p.Pro156= | |
| ENST00000679851.1:n.453C>T | ||
| ENST00000680021.1:n.668C>T | ||
| ENST00000680043.1:c.20C>T | ||
| ENST00000680219.1:c.20C>T | ||
| ENST00000680243.1:c.*247C>T | ENSP00000505911.1:n.*247C>T | |
| ENST00000680296.1:c.20C>T | ||
| ENST00000680746.1:c.345C>T | ENSP00000505030.1:p.Pro115= | |
| ENST00000680891.1:c.*260C>T | ENSP00000505167.1:n.*260C>T | |
| ENST00000681306.1:c.468C>T | ENSP00000506072.1:p.Pro156= | |
| ENST00000681618.1:c.345C>T | ENSP00000505773.1:p.Pro115= | |
| ENST00000681644.1:c.*140C>T | ENSP00000505180.1:n.*140C>T | |
| ENST00000681806.1:c.468C>T | ENSP00000505282.1:p.Pro156= | |
| ENST00000681942.1:c.20C>T | ||
| ENST00000382096.5:c.345C>T | ENSP00000371528.1:p.Pro115= | |
| ENST00000382099.2:c.468C>T | ENSP00000371531.2:p.Pro156= | |
| ENST00000382100.7:c.468C>T | ENSP00000371532.2:p.Pro156= | |
| NM_001018056.1:c.468C>T | NP_001018066.1:p.Pro156= | |
| NM_003383.3:c.468C>T | NP_003374.3:p.Pro156= | |
| XM_011518029.1:c.345C>T | XP_011516331.1:p.Pro115= | |
| NM_001018056.2:c.468C>T | NP_001018066.1:p.Pro156= | |
| NM_001322225.1:c.345C>T | NP_001309154.1:p.Pro115= | |
| NM_001322226.1:c.345C>T | NP_001309155.1:p.Pro115= | |
| NM_003383.4:c.468C>T | NP_003374.3:p.Pro156= | |
| XR_001746373.2:n.872C>T | ||
| XR_002956805.1:n.872C>T | ||
| NM_003383.5:c.468C>T MANE Select | NP_003374.3:p.Pro156= | |
| NM_001018056.3:c.468C>T | NP_001018066.1:p.Pro156= | |
| NM_001322225.2:c.345C>T | NP_001309154.1:p.Pro115= | |
| NM_001322226.2:c.345C>T | NP_001309155.1:p.Pro115= |