Linked Data
ClinVar Variation Id:
554907
ClinVar RCV Id:
RCV000670621
dbSNP Id:
rs373203481
ExAC:
19:13007781 G / A
gnomAD v2:
19-13007781-G-A
gnomAD v3:
19-12896967-G-A
gnomAD v4:
19-12896967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896967G>A , CM000681.2:g.12896967G>A | GRCh38 |
| NC_000019.9:g.13007781G>A , CM000681.1:g.13007781G>A | GRCh37 |
| NC_000019.8:g.12868781G>A | NCBI36 |
| NG_009292.1:g.10808G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.910G>A MANE Select | ENSP00000222214.4:p.Ala304Thr | |
| ENST00000222214.9:c.910G>A | ENSP00000222214.4:p.Ala304Thr | |
| ENST00000421816.6:n.888G>A | ||
| ENST00000585420.5:n.1240G>A | ||
| ENST00000590530.5:c.*350G>A | ENSP00000468452.1:n.*350G>A | |
| ENST00000591043.1:n.946G>A | ||
| ENST00000591470.5:c.910G>A | ENSP00000466845.1:p.Ala304Thr | |
| NM_000159.3:c.910G>A | NP_000150.1:p.Ala304Thr | |
| NM_013976.3:c.910G>A | NP_039663.1:p.Ala304Thr | |
| NR_102316.1:n.1073G>A | ||
| NR_102317.1:n.1291G>A | ||
| XM_006722721.2:c.910G>A | XP_006722784.1:p.Ala304Thr | |
| XM_011527899.1:c.910G>A | XP_011526201.1:p.Ala304Thr | |
| XM_011527900.1:c.910G>A | XP_011526202.1:p.Ala304Thr | |
| XM_011527899.2:c.910G>A | XP_011526201.1:p.Ala304Thr | |
| XM_011527900.2:c.910G>A | XP_011526202.1:p.Ala304Thr | |
| XM_017026580.1:c.910G>A | XP_016882069.1:p.Ala304Thr | |
| NM_000159.4:c.910G>A MANE Select | NP_000150.1:p.Ala304Thr | |
| NM_013976.4:c.910G>A | NP_039663.1:p.Ala304Thr | |
| NM_013976.5:c.910G>A | NP_039663.1:p.Ala304Thr |