Linked Data
ClinVar Variation Id:
2380456
ClinVar RCV Id:
RCV004218951
dbSNP Id:
rs550408572
ExAC:
15:22969349 G / A
gnomAD v2:
15-22969349-G-A
gnomAD v3:
15-22903719-C-T
gnomAD v4:
15-22903719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903719C>T , CM000677.2:g.22903719C>T | GRCh38 |
| NC_000015.9:g.22969349G>A , CM000677.1:g.22969349G>A | GRCh37 |
| NC_000015.8:g.20520790G>A | NCBI36 |
| NG_054889.1:g.82188G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2569G>A | ENSP00000479802.2:p.Gly857Ser | |
| ENST00000617928.5:c.2575G>A MANE Select | ENSP00000481038.1:p.Gly859Ser | |
| ENST00000610365.4:c.2575G>A | ENSP00000478779.1:p.Gly859Ser | |
| ENST00000617556.4:c.1282G>A | ENSP00000480525.1:p.Gly428Ser | |
| ENST00000617928.4:c.2575G>A | ENSP00000481038.1:p.Gly859Ser | |
| ENST00000619348.4:n.1722G>A | ||
| NM_001033028.1:c.1282G>A | NP_001028200.1:p.Gly428Ser | |
| NM_001287810.1:c.2575G>A | NP_001274739.1:p.Gly859Ser | |
| NM_014608.3:c.2575G>A | NP_055423.1:p.Gly859Ser | |
| XM_011543873.1:c.2974G>A | XP_011542175.1:p.Gly992Ser | |
| XM_011543874.1:c.2974G>A | XP_011542176.1:p.Gly992Ser | |
| XM_011543875.1:c.2974G>A | XP_011542177.1:p.Gly992Ser | |
| XM_011543876.1:c.2569G>A | XP_011542178.1:p.Gly857Ser | |
| NM_001033028.2:c.1282G>A | NP_001028200.1:p.Gly428Ser | |
| NM_001287810.3:c.2575G>A | NP_001274739.1:p.Gly859Ser | |
| NM_001324119.2:c.2677G>A | NP_001311048.1:p.Gly893Ser | |
| NM_001324120.2:c.2575G>A | NP_001311049.1:p.Gly859Ser | |
| NM_001324122.2:c.895G>A | NP_001311051.1:p.Gly299Ser | |
| NM_001324123.2:c.2575G>A | NP_001311052.1:p.Gly859Ser | |
| NM_001324124.2:c.2485G>A | NP_001311053.1:p.Gly829Ser | |
| NM_001324125.2:c.2209G>A | NP_001311054.1:p.Gly737Ser | |
| NM_001324126.2:c.2473G>A | NP_001311055.1:p.Gly825Ser | |
| NM_014608.5:c.2575G>A | NP_055423.1:p.Gly859Ser | |
| XM_011543873.3:c.2974G>A | XP_011542175.1:p.Gly992Ser | |
| XM_011543874.2:c.2974G>A | XP_011542176.1:p.Gly992Ser | |
| XM_011543876.3:c.2671G>A | XP_011542178.2:p.Gly891Ser | |
| XM_017022023.2:c.3076G>A | XP_016877512.1:p.Gly1026Ser | |
| XM_017022024.2:c.2974G>A | XP_016877513.1:p.Gly992Ser | |
| XM_024449876.1:c.2974G>A | XP_024305644.1:p.Gly992Ser | |
| XM_024449877.1:c.2575G>A | XP_024305645.1:p.Gly859Ser | |
| NM_014608.6:c.2575G>A MANE Select | NP_055423.1:p.Gly859Ser | |
| NM_001287810.4:c.2575G>A | NP_001274739.1:p.Gly859Ser | |
| NM_001324122.3:c.895G>A | NP_001311051.1:p.Gly299Ser | |
| NM_001324123.3:c.2575G>A | NP_001311052.1:p.Gly859Ser | |
| NM_001324124.3:c.2485G>A | NP_001311053.1:p.Gly829Ser | |
| NM_001324125.3:c.2209G>A | NP_001311054.1:p.Gly737Ser | |
| NM_001324126.3:c.2473G>A | NP_001311055.1:p.Gly825Ser | |
| NM_001033028.3:c.1282G>A | NP_001028200.1:p.Gly428Ser |