Linked Data
ClinVar Variation Id:
346499
ClinVar RCV Id:
RCV000277062
RCV000325041
RCV000615223
RCV000883708
RCV002255371
RCV002520183
RCV003922521
dbSNP Id:
rs2055006
ExAC:
3:70014098 T / C
gnomAD v2:
3-70014098-T-C
gnomAD v3:
3-69964947-T-C
gnomAD v4:
3-69964947-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964947T>C , CM000665.2:g.69964947T>C | GRCh38 |
| NC_000003.11:g.70014098T>C , CM000665.1:g.70014098T>C | GRCh37 |
| NC_000003.10:g.70096788T>C | NCBI36 |
| NG_011631.1:g.230466T>C , LRG_776:g.230466T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1214T>C | ENSP00000324443.5:p.Val405Ala | |
| ENST00000687384.1:c.1211T>C | ENSP00000510225.1:p.Val404Ala | |
| ENST00000689390.1:n.1436T>C | ||
| ENST00000693031.1:c.1187T>C | ENSP00000509845.1:p.Val396Ala | |
| ENST00000693549.1:c.*25T>C | ENSP00000509358.1:n.*25T>C | |
| ENST00000314589.10:c.1214T>C | ENSP00000324443.5:p.Val405Ala | |
| ENST00000352241.9:c.1280T>C MANE Select | ENSP00000295600.8:p.Val427Ala | |
| ENST00000394351.9:c.959T>C MANE Plus Clinical | ENSP00000377880.3:p.Val320Ala | |
| ENST00000448226.9:c.1259T>C | ENSP00000391803.3:p.Val420Ala | |
| ENST00000642352.1:c.1262T>C | ENSP00000494105.1:p.Val421Ala | |
| ENST00000314557.10:c.941T>C | ENSP00000324246.6:p.Val314Ala | |
| ENST00000314589.9:c.1214T>C | ENSP00000324443.5:p.Val405Ala | |
| ENST00000328528.10:c.1259T>C | ENSP00000327867.6:p.Val420Ala | |
| ENST00000352241.8:c.1262T>C | ENSP00000295600.7:p.Val421Ala | |
| ENST00000394351.7:c.959T>C | ENSP00000377880.3:p.Val320Ala | |
| ENST00000448226.6:c.1280T>C | ENSP00000391803.2:p.Val427Ala | |
| ENST00000472437.5:c.1106T>C | ENSP00000418845.1:p.Val369Ala | |
| ENST00000478490.5:c.*606T>C | ENSP00000433487.1:n.*606T>C | |
| ENST00000531774.1:c.773T>C | ENSP00000435909.1:p.Val258Ala | |
| NM_000248.3:c.959T>C , LRG_776t1:c.959T>C | NP_000239.1:p.Val320Ala | |
| NM_001184967.1:c.1106T>C | NP_001171896.1:p.Val369Ala | |
| NM_006722.2:c.1259T>C | NP_006713.1:p.Val420Ala | |
| NM_198158.2:c.941T>C | NP_937801.1:p.Val314Ala | |
| NM_198159.2:c.1262T>C | NP_937802.1:p.Val421Ala | |
| NM_198177.2:c.1214T>C | NP_937820.1:p.Val405Ala | |
| NM_198178.2:c.773T>C | NP_937821.2:p.Val258Ala | |
| XM_005264754.1:c.1280T>C | XP_005264811.1:p.Val427Ala | |
| XM_005264755.2:c.1232T>C | XP_005264812.1:p.Val411Ala | |
| XM_006713164.2:c.1124T>C | XP_006713227.1:p.Val375Ala | |
| XM_011533722.1:c.1277T>C | XP_011532024.1:p.Val426Ala | |
| XM_011533723.1:c.1229T>C | XP_011532025.1:p.Val410Ala | |
| XM_011533724.1:c.1124T>C | XP_011532026.1:p.Val375Ala | |
| XM_011533725.1:c.1112T>C | XP_011532027.1:p.Val371Ala | |
| XM_011533726.1:c.1094T>C | XP_011532028.1:p.Val365Ala | |
| NM_001354604.1:c.1280T>C | NP_001341533.1:p.Val427Ala | |
| NM_001354605.1:c.1277T>C | NP_001341534.1:p.Val426Ala | |
| NM_001354606.1:c.1259T>C | NP_001341535.1:p.Val420Ala | |
| NM_001354607.1:c.1211T>C | NP_001341536.1:p.Val404Ala | |
| NM_001354608.1:c.1106T>C | NP_001341537.1:p.Val369Ala | |
| NM_001184967.2:c.1106T>C | NP_001171896.1:p.Val369Ala | |
| NM_001354604.2:c.1280T>C MANE Select | NP_001341533.1:p.Val427Ala | |
| NM_001354605.2:c.1277T>C | NP_001341534.1:p.Val426Ala | |
| NM_001354606.2:c.1259T>C | NP_001341535.1:p.Val420Ala | |
| NM_001354607.2:c.1211T>C | NP_001341536.1:p.Val404Ala | |
| NM_001354608.2:c.1106T>C | NP_001341537.1:p.Val369Ala | |
| NM_198158.3:c.941T>C | NP_937801.1:p.Val314Ala | |
| NM_198159.3:c.1262T>C | NP_937802.1:p.Val421Ala | |
| NM_198177.3:c.1214T>C | NP_937820.1:p.Val405Ala | |
| NM_198178.3:c.773T>C | NP_937821.2:p.Val258Ala | |
| NM_000248.4:c.959T>C MANE Plus Clinical | NP_000239.1:p.Val320Ala | |
| NM_006722.3:c.1259T>C | NP_006713.1:p.Val420Ala |