Linked Data
dbSNP Id:
rs746682180
ExAC:
17:40688640 T / C
gnomAD v2:
17-40688640-T-C
gnomAD v4:
17-42536622-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536622T>C , CM000679.2:g.42536622T>C | GRCh38 |
| NC_000017.10:g.40688640T>C , CM000679.1:g.40688640T>C | GRCh37 |
| NC_000017.9:g.37942166T>C | NCBI36 |
| NG_011552.1:g.5690T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.350T>C MANE Select | ENSP00000225927.1:p.Val117Ala | |
| ENST00000225927.6:c.350T>C | ENSP00000225927.1:p.Val117Ala | |
| ENST00000586516.5:c.100T>C | ||
| ENST00000591587.1:c.93T>C | ENSP00000467836.1:p.Arg31= | |
| NM_000263.3:c.350T>C | NP_000254.2:p.Val117Ala | |
| XM_006721920.2:c.-393T>C | XP_006721983.1:n.-393T>C | |
| XM_011524840.1:c.-393T>C | XP_011523142.1:n.-393T>C | |
| XM_024450771.1:c.350T>C | XP_024306539.1:p.Val117Ala | |
| NM_000263.4:c.350T>C MANE Select | NP_000254.2:p.Val117Ala |