Linked Data
ClinVar Variation Id:
551442
ClinVar RCV Id:
RCV000666505
dbSNP Id:
rs200859630
ExAC:
2:73717281 T / C
gnomAD v2:
2-73717281-T-C
gnomAD v3:
2-73490154-T-C
gnomAD v4:
2-73490154-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490154T>C , CM000664.2:g.73490154T>C | GRCh38 |
| NC_000002.11:g.73717281T>C , CM000664.1:g.73717281T>C | GRCh37 |
| NC_000002.10:g.73570789T>C | NCBI36 |
| NG_011690.1:g.109402T>C , LRG_741:g.109402T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7814T>C | ENSP00000507671.1:p.Val2605Ala | |
| ENST00000682801.1:c.7814T>C | ENSP00000507862.1:p.Val2605Ala | |
| ENST00000682859.1:c.7814T>C | ENSP00000508222.1:p.Val2605Ala | |
| ENST00000683791.1:c.1206T>C | ||
| ENST00000684460.1:c.5266T>C | ||
| ENST00000684548.1:c.7814T>C | ENSP00000507421.1:p.Val2605Ala | |
| ENST00000684590.1:c.2261T>C | ENSP00000507376.1:p.Val754Ala | |
| ENST00000684656.1:c.5266T>C | ||
| ENST00000613296.6:c.8195T>C MANE Select | ENSP00000482968.1:p.Val2732Ala | |
| ENST00000651434.1:c.896-29621T>C | ||
| ENST00000423048.5:c.3026T>C | ENSP00000399833.1:p.Val1009Ala | |
| ENST00000484298.5:c.8069T>C | ENSP00000478155.1:p.Val2690Ala | |
| ENST00000613296.4:c.8195T>C | ENSP00000482968.1:p.Val2732Ala | |
| ENST00000614410.4:c.8195T>C | ENSP00000479094.1:p.Val2732Ala | |
| ENST00000620466.4:n.1998T>C | ||
| NM_015120.4:c.8198T>C , LRG_741t1:c.8198T>C | NP_055935.4:p.Val2733Ala | |
| NM_001378454.1:c.8195T>C MANE Select | NP_001365383.1:p.Val2732Ala |