Linked Data
dbSNP Id:
rs748565917
ExAC:
17:38028715 T / A
gnomAD v2:
17-38028715-T-A
gnomAD v4:
17-39872462-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872462T>A , CM000679.2:g.39872462T>A | GRCh38 |
| NC_000017.10:g.38028715T>A , CM000679.1:g.38028715T>A | GRCh37 |
| NC_000017.9:g.35282241T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.599T>A MANE Select | ENSP00000335384.5:p.Ile200Lys | |
| ENST00000348931.8:c.599T>A | ENSP00000335384.5:p.Ile200Lys | |
| ENST00000377940.3:c.533T>A | ENSP00000367174.3:p.Ile178Lys | |
| ENST00000583811.5:c.245T>A | ENSP00000462463.1:p.Ile82Lys | |
| ENST00000584588.5:c.407-582T>A | ENSP00000462067.1:n.407-582T>A | |
| NM_198844.2:c.533T>A | NP_942141.2:p.Ile178Lys | |
| NM_199321.2:c.599T>A | NP_955353.1:p.Ile200Lys | |
| XM_011524298.1:c.599T>A | XP_011522600.1:p.Ile200Lys | |
| XR_002957959.1:n.790T>A | ||
| NM_198844.3:c.533T>A | NP_942141.2:p.Ile178Lys | |
| NM_199321.3:c.599T>A MANE Select | NP_955353.1:p.Ile200Lys |