Linked Data
dbSNP Id:
rs775234915
ExAC:
17:64224235 C / T
gnomAD v2:
17-64224235-C-T
gnomAD v3:
17-66228117-C-T
gnomAD v4:
17-66228117-C-T
COSMIC:
COSM983136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228117C>T , CM000679.2:g.66228117C>T | GRCh38 |
| NC_000017.10:g.64224235C>T , CM000679.1:g.64224235C>T | GRCh37 |
| NC_000017.9:g.61654697C>T | NCBI36 |
| NG_012045.1:g.6322G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.144G>A MANE Select | ENSP00000205948.6:p.Thr48= | |
| ENST00000205948.10:c.144G>A | ENSP00000205948.6:p.Thr48= | |
| ENST00000577982.1:c.144G>A | ENSP00000464301.1:p.Thr48= | |
| ENST00000581797.5:c.-37G>A | ENSP00000463553.1:n.-37G>A | |
| NM_000042.2:c.144G>A | NP_000033.2:p.Thr48= | |
| NM_000042.3:c.144G>A MANE Select | NP_000033.2:p.Thr48= |