Linked Data
ClinVar Variation Id:
984312
ClinVar RCV Id:
RCV001264322
dbSNP Id:
rs1970671544
gnomAD v4:
19-12896121-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896121G>A , CM000681.2:g.12896121G>A | GRCh38 |
| NC_000019.9:g.13006935G>A , CM000681.1:g.13006935G>A | GRCh37 |
| NC_000019.8:g.12867935G>A | NCBI36 |
| NG_009292.1:g.9962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.635G>A MANE Select | ENSP00000222214.4:p.Trp212Ter | |
| ENST00000222214.9:c.635G>A | ENSP00000222214.4:p.Trp212Ter | |
| ENST00000421816.6:n.613G>A | ||
| ENST00000585420.5:n.1000G>A | ||
| ENST00000590530.5:c.*75G>A | ENSP00000468452.1:n.*75G>A | |
| ENST00000591043.1:n.671G>A | ||
| ENST00000591470.5:c.635G>A | ENSP00000466845.1:p.Trp212Ter | |
| NM_000159.3:c.635G>A | NP_000150.1:p.Trp212Ter | |
| NM_013976.3:c.635G>A | NP_039663.1:p.Trp212Ter | |
| NR_102316.1:n.798G>A | ||
| NR_102317.1:n.1051G>A | ||
| XM_006722721.2:c.635G>A | XP_006722784.1:p.Trp212Ter | |
| XM_011527899.1:c.635G>A | XP_011526201.1:p.Trp212Ter | |
| XM_011527900.1:c.635G>A | XP_011526202.1:p.Trp212Ter | |
| XM_011527899.2:c.635G>A | XP_011526201.1:p.Trp212Ter | |
| XM_011527900.2:c.635G>A | XP_011526202.1:p.Trp212Ter | |
| XM_017026580.1:c.635G>A | XP_016882069.1:p.Trp212Ter | |
| NM_000159.4:c.635G>A MANE Select | NP_000150.1:p.Trp212Ter | |
| NM_013976.4:c.635G>A | NP_039663.1:p.Trp212Ter | |
| NM_013976.5:c.635G>A | NP_039663.1:p.Trp212Ter |