Linked Data
ClinVar Variation Id:
97054
ClinVar RCV Id:
RCV000083298
RCV001075445
RCV001268554
RCV001542691
RCV003398688
RCV000626462
RCV002509205
dbSNP Id:
rs199826737
ExAC:
16:1621495 C / T
gnomAD v2:
16-1621495-C-T
gnomAD v3:
16-1571494-C-T
gnomAD v4:
16-1571494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1571494C>T , CM000678.2:g.1571494C>T | GRCh38 |
| NC_000016.9:g.1621495C>T , CM000678.1:g.1621495C>T | GRCh37 |
| NC_000016.8:g.1561496C>T | NCBI36 |
| NG_032783.1:g.45615G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.1565G>A MANE Select | ENSP00000406012.2:p.Gly522Glu | |
| ENST00000397417.6:c.*117G>A | ENSP00000380562.2:n.*117G>A | |
| ENST00000426508.6:c.1565G>A | ENSP00000406012.2:p.Gly522Glu | |
| ENST00000439987.6:n.1626G>A | ||
| ENST00000565298.5:n.253G>A | ||
| NM_014714.3:c.1565G>A | NP_055529.2:p.Gly522Glu | |
| XM_005255725.3:c.1565G>A | XP_005255782.1:p.Gly522Glu | |
| XM_005255726.2:c.1565G>A | XP_005255783.1:p.Gly522Glu | |
| XM_006720989.2:c.1565G>A | XP_006721052.1:p.Gly522Glu | |
| XM_006720990.2:c.1565G>A | XP_006721053.1:p.Gly522Glu | |
| XM_006720991.2:c.1565G>A | XP_006721054.1:p.Gly522Glu | |
| XM_011522766.1:c.1525-5203G>A | XP_011521068.1:n.1525-5203G>A | |
| XM_011522767.1:c.590G>A | XP_011521069.1:p.Gly197Glu | |
| XM_011522768.1:c.1565G>A | XP_011521070.1:p.Gly522Glu | |
| XM_011522769.1:c.1565G>A | XP_011521071.1:p.Gly522Glu | |
| XM_011522771.1:c.1565G>A | XP_011521073.1:p.Gly522Glu | |
| XM_011522772.1:c.1565G>A | XP_011521074.1:p.Gly522Glu | |
| XM_005255725.5:c.1565G>A | XP_005255782.1:p.Gly522Glu | |
| XM_005255726.4:c.1565G>A | XP_005255783.1:p.Gly522Glu | |
| XM_006720990.3:c.1565G>A | XP_006721053.1:p.Gly522Glu | |
| XM_006720991.3:c.1565G>A | XP_006721054.1:p.Gly522Glu | |
| XM_011522766.3:c.1525-5203G>A | XP_011521068.1:n.1525-5203G>A | |
| XM_011522767.2:c.590G>A | XP_011521069.1:p.Gly197Glu | |
| XM_011522769.3:c.1565G>A | XP_011521071.1:p.Gly522Glu | |
| XM_011522771.3:c.1565G>A | XP_011521073.1:p.Gly522Glu | |
| XM_011522772.3:c.1565G>A | XP_011521074.1:p.Gly522Glu | |
| XM_017023910.1:c.1565G>A | XP_016879399.1:p.Gly522Glu | |
| XM_017023911.1:c.-133G>A | XP_016879400.1:n.-133G>A | |
| NM_014714.4:c.1565G>A MANE Select | NP_055529.2:p.Gly522Glu |