Linked Data
dbSNP Id:
rs7170637
ExAC:
15:22969232 G / A
gnomAD v2:
15-22969232-G-A
gnomAD v3:
15-22903836-C-T
gnomAD v4:
15-22903836-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903836C>T , CM000677.2:g.22903836C>T | GRCh38 |
| NC_000015.9:g.22969232G>A , CM000677.1:g.22969232G>A | GRCh37 |
| NC_000015.8:g.20520673G>A | NCBI36 |
| NG_054889.1:g.82071G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000612288.2:c.2452G>A | ENSP00000479802.2:p.Gly818Ser | |
| ENST00000617928.5:c.2458G>A MANE Select | ENSP00000481038.1:p.Gly820Ser | |
| ENST00000610365.4:c.2458G>A | ENSP00000478779.1:p.Gly820Ser | |
| ENST00000617556.4:c.1165G>A | ENSP00000480525.1:p.Gly389Ser | |
| ENST00000617928.4:c.2458G>A | ENSP00000481038.1:p.Gly820Ser | |
| ENST00000619290.4:n.851G>A | ||
| ENST00000619348.4:n.1605G>A | ||
| NM_001033028.1:c.1165G>A | NP_001028200.1:p.Gly389Ser | |
| NM_001287810.1:c.2458G>A | NP_001274739.1:p.Gly820Ser | |
| NM_014608.3:c.2458G>A | NP_055423.1:p.Gly820Ser | |
| XM_011543873.1:c.2857G>A | XP_011542175.1:p.Gly953Ser | |
| XM_011543874.1:c.2857G>A | XP_011542176.1:p.Gly953Ser | |
| XM_011543875.1:c.2857G>A | XP_011542177.1:p.Gly953Ser | |
| XM_011543876.1:c.2452G>A | XP_011542178.1:p.Gly818Ser | |
| NM_001033028.2:c.1165G>A | NP_001028200.1:p.Gly389Ser | |
| NM_001287810.3:c.2458G>A | NP_001274739.1:p.Gly820Ser | |
| NM_001324119.2:c.2560G>A | NP_001311048.1:p.Gly854Ser | |
| NM_001324120.2:c.2458G>A | NP_001311049.1:p.Gly820Ser | |
| NM_001324122.2:c.778G>A | NP_001311051.1:p.Gly260Ser | |
| NM_001324123.2:c.2458G>A | NP_001311052.1:p.Gly820Ser | |
| NM_001324124.2:c.2368G>A | NP_001311053.1:p.Gly790Ser | |
| NM_001324125.2:c.2092G>A | NP_001311054.1:p.Gly698Ser | |
| NM_001324126.2:c.2356G>A | NP_001311055.1:p.Gly786Ser | |
| NM_014608.5:c.2458G>A | NP_055423.1:p.Gly820Ser | |
| XM_011543873.3:c.2857G>A | XP_011542175.1:p.Gly953Ser | |
| XM_011543874.2:c.2857G>A | XP_011542176.1:p.Gly953Ser | |
| XM_011543876.3:c.2554G>A | XP_011542178.2:p.Gly852Ser | |
| XM_017022023.2:c.2959G>A | XP_016877512.1:p.Gly987Ser | |
| XM_017022024.2:c.2857G>A | XP_016877513.1:p.Gly953Ser | |
| XM_024449876.1:c.2857G>A | XP_024305644.1:p.Gly953Ser | |
| XM_024449877.1:c.2458G>A | XP_024305645.1:p.Gly820Ser | |
| NM_014608.6:c.2458G>A MANE Select | NP_055423.1:p.Gly820Ser | |
| NM_001287810.4:c.2458G>A | NP_001274739.1:p.Gly820Ser | |
| NM_001324122.3:c.778G>A | NP_001311051.1:p.Gly260Ser | |
| NM_001324123.3:c.2458G>A | NP_001311052.1:p.Gly820Ser | |
| NM_001324124.3:c.2368G>A | NP_001311053.1:p.Gly790Ser | |
| NM_001324125.3:c.2092G>A | NP_001311054.1:p.Gly698Ser | |
| NM_001324126.3:c.2356G>A | NP_001311055.1:p.Gly786Ser | |
| NM_001033028.3:c.1165G>A | NP_001028200.1:p.Gly389Ser |