Linked Data
ClinVar Variation Id:
2095196
ClinVar RCV Id:
RCV003013737
gnomAD v2:
19-2251933-G-A
gnomAD v4:
19-2251934-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251934G>A , CM000681.2:g.2251934G>A | GRCh38 |
| NC_000019.9:g.2251933G>A , CM000681.1:g.2251933G>A | GRCh37 |
| NC_000019.8:g.2202933G>A | NCBI36 |
| NG_012190.1:g.7821G>A | |
| NG_032853.1:g.9490C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1660G>A MANE Select | ENSP00000221496.2:p.Ala554Thr | |
| ENST00000221496.4:c.1660G>A | ENSP00000221496.2:p.Ala554Thr | |
| NM_000479.3:c.1660G>A | NP_000470.2:p.Ala554Thr | |
| NM_000479.4:c.1660G>A | NP_000470.2:p.Ala554Thr | |
| NM_000479.5:c.1660G>A MANE Select | NP_000470.3:p.Ala554Thr |