Linked Data
ClinVar Variation Id:
99194
ClinVar RCV Id:
RCV000085543
dbSNP Id:
rs61749457
gnomAD v2:
1-94509027-T-C
gnomAD v4:
1-94043471-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043471T>C , CM000663.2:g.94043471T>C | GRCh38 |
| NC_000001.10:g.94509027T>C , CM000663.1:g.94509027T>C | GRCh37 |
| NC_000001.9:g.94281615T>C | NCBI36 |
| NG_009073.1:g.82679A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3055A>G MANE Select | ENSP00000359245.3:p.Thr1019Ala | |
| ENST00000370225.3:c.3055A>G | ENSP00000359245.3:p.Thr1019Ala | |
| ENST00000536513.5:c.-64-3382A>G | ENSP00000439707.2:n.-64-3382A>G | |
| NM_000350.2:c.3055A>G | NP_000341.2:p.Thr1019Ala | |
| NM_000350.3:c.3055A>G MANE Select | NP_000341.2:p.Thr1019Ala |