Linked Data
gnomAD v4:
17-74763419-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763419T>G , CM000679.2:g.74763419T>G | GRCh38 |
| NC_000017.10:g.72759558T>G , CM000679.1:g.72759558T>G | GRCh37 |
| NC_000017.9:g.70271153T>G | NCBI36 |
| NG_013022.1:g.19796T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.656T>G MANE Select | ENSP00000262613.5:p.Ile219Ser | |
| ENST00000262613.9:c.656T>G | ENSP00000262613.5:p.Ile219Ser | |
| ENST00000413388.2:c.188T>G | ENSP00000464982.1:p.Ile63Ser | |
| ENST00000578958.1:n.390T>G | ||
| ENST00000583369.5:c.442-4728T>G | ENSP00000464321.1:n.442-4728T>G | |
| NM_004252.4:c.656T>G | NP_004243.1:p.Ile219Ser | |
| XR_002958087.1:n.875T>G | ||
| NM_004252.5:c.656T>G MANE Select | NP_004243.1:p.Ile219Ser |