Linked Data
ClinVar Variation Id:
452751
dbSNP Id:
rs546805063
ExAC:
10:97445323 A / G
gnomAD v2:
10-97445323-A-G
gnomAD v3:
10-95685566-A-G
gnomAD v4:
10-95685566-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95685566A>G , CM000672.2:g.95685566A>G | GRCh38 |
| NC_000010.10:g.97445323A>G , CM000672.1:g.97445323A>G | GRCh37 |
| NC_000010.9:g.97435313A>G | NCBI36 |
| NG_032953.1:g.13578T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371217.10:c.959T>C MANE Select | ENSP00000360261.5:p.Val320Ala | |
| ENST00000614499.5:c.1013T>C | ENSP00000483364.2:p.Val338Ala | |
| ENST00000679485.1:n.983T>C | ||
| ENST00000679566.1:c.853-942T>C | ENSP00000505964.1:n.853-942T>C | |
| ENST00000679984.1:c.*214T>C | ENSP00000504998.1:n.*214T>C | |
| ENST00000680144.1:c.888+929T>C | ENSP00000506398.1:n.888+929T>C | |
| ENST00000680353.1:c.959T>C | ENSP00000505367.1:p.Val320Ala | |
| ENST00000680697.1:n.543-942T>C | ||
| ENST00000680709.1:c.722T>C | ENSP00000505830.1:p.Val241Ala | |
| ENST00000681127.1:n.1870T>C | ||
| ENST00000681739.1:n.1014T>C | ||
| ENST00000681928.1:c.*130+1478T>C | ENSP00000505552.1:n.*130+1478T>C | |
| ENST00000265993.13:c.1013T>C | ENSP00000265993.9:p.Val338Ala | |
| ENST00000371209.5:c.959T>C | ENSP00000360253.5:p.Val320Ala | |
| ENST00000371217.9:c.959T>C | ENSP00000360261.5:p.Val320Ala | |
| ENST00000430368.6:c.651+929T>C | ENSP00000387567.1:n.651+929T>C | |
| ENST00000614499.4:c.959T>C | ENSP00000483364.1:p.Val320Ala | |
| NM_001143973.1:c.651+929T>C | NP_001137445.1:n.651+929T>C | |
| NM_015631.5:c.959T>C | NP_056446.4:p.Val320Ala | |
| XM_005269690.1:c.942+929T>C | XP_005269747.1:n.942+929T>C | |
| XM_011539627.1:c.1013T>C | XP_011537929.1:p.Val338Ala | |
| XM_011539628.1:c.1013T>C | XP_011537930.1:p.Val338Ala | |
| XM_005269690.2:c.942+929T>C | XP_005269747.1:n.942+929T>C | |
| XM_011539627.2:c.1013T>C | XP_011537929.1:p.Val338Ala | |
| XM_011539628.2:c.1013T>C | XP_011537930.1:p.Val338Ala | |
| XM_024447935.1:c.942+929T>C | XP_024303703.1:n.942+929T>C | |
| NM_015631.6:c.959T>C MANE Select | NP_056446.4:p.Val320Ala | |
| NM_001143973.2:c.651+929T>C | NP_001137445.1:n.651+929T>C |