Linked Data
ClinVar Variation Id:
3128011
ClinVar RCV Id:
RCV004417844
dbSNP Id:
rs1350176353
gnomAD v3:
17-66228139-T-C
gnomAD v4:
17-66228139-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228139T>C , CM000679.2:g.66228139T>C | GRCh38 |
| NC_000017.10:g.64224257T>C , CM000679.1:g.64224257T>C | GRCh37 |
| NC_000017.9:g.61654719T>C | NCBI36 |
| NG_012045.1:g.6300A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.122A>G MANE Select | ENSP00000205948.6:p.Tyr41Cys | |
| ENST00000205948.10:c.122A>G | ENSP00000205948.6:p.Tyr41Cys | |
| ENST00000577982.1:c.122A>G | ENSP00000464301.1:p.Tyr41Cys | |
| ENST00000581797.5:c.-59A>G | ENSP00000463553.1:n.-59A>G | |
| NM_000042.2:c.122A>G | NP_000033.2:p.Tyr41Cys | |
| NM_000042.3:c.122A>G MANE Select | NP_000033.2:p.Tyr41Cys |