Linked Data
dbSNP Id:
rs373993395
ExAC:
10:96702075 T / C
gnomAD v2:
10-96702075-T-C
gnomAD v3:
10-94942318-T-C
gnomAD v4:
10-94942318-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942318T>C , CM000672.2:g.94942318T>C | GRCh38 |
| NC_000010.10:g.96702075T>C , CM000672.1:g.96702075T>C | GRCh37 |
| NC_000010.9:g.96692065T>C | NCBI36 |
| NG_008385.1:g.8661T>C | |
| NG_008385.2:g.9161T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.458T>C MANE Select | ENSP00000260682.6:p.Val153Ala | |
| ENST00000643112.1:c.458T>C | ENSP00000496202.1:p.Val153Ala | |
| ENST00000645207.1:n.611T>C | ||
| ENST00000260682.6:c.458T>C | ENSP00000260682.6:p.Val153Ala | |
| ENST00000461906.1:n.483T>C | ||
| ENST00000473496.1:n.229T>C | ||
| NM_000771.3:c.458T>C | NP_000762.2:p.Val153Ala | |
| NM_000771.4:c.458T>C MANE Select | NP_000762.2:p.Val153Ala |