Linked Data
dbSNP Id:
rs2063369885
gnomAD v3:
17-39872466-T-C
gnomAD v4:
17-39872466-T-C
MyVariant Identifiers:
chr17:g.38028719T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872466T>C , CM000679.2:g.39872466T>C | GRCh38 |
| NC_000017.10:g.38028719T>C , CM000679.1:g.38028719T>C | GRCh37 |
| NC_000017.9:g.35282245T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.603T>C MANE Select | ENSP00000335384.5:p.His201= | |
| ENST00000348931.8:c.603T>C | ENSP00000335384.5:p.His201= | |
| ENST00000377940.3:c.537T>C | ENSP00000367174.3:p.His179= | |
| ENST00000583811.5:c.249T>C | ENSP00000462463.1:p.His83= | |
| ENST00000584588.5:c.407-578T>C | ENSP00000462067.1:n.407-578T>C | |
| NM_198844.2:c.537T>C | NP_942141.2:p.His179= | |
| NM_199321.2:c.603T>C | NP_955353.1:p.His201= | |
| XM_011524298.1:c.603T>C | XP_011522600.1:p.His201= | |
| XR_002957959.1:n.794T>C | ||
| NM_198844.3:c.537T>C | NP_942141.2:p.His179= | |
| NM_199321.3:c.603T>C MANE Select | NP_955353.1:p.His201= |