Linked Data
dbSNP Id:
rs562750082
gnomAD v2:
15-22969225-G-T
gnomAD v3:
15-22903843-C-A
gnomAD v4:
15-22903843-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.22903843C>A , CM000677.2:g.22903843C>A | GRCh38 |
| NC_000015.9:g.22969225G>T , CM000677.1:g.22969225G>T | GRCh37 |
| NC_000015.8:g.20520666G>T | NCBI36 |
| NG_054889.1:g.82064G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612288.2:c.2445G>T | ENSP00000479802.2:p.Thr815= | |
| ENST00000617928.5:c.2451G>T MANE Select | ENSP00000481038.1:p.Thr817= | |
| ENST00000610365.4:c.2451G>T | ENSP00000478779.1:p.Thr817= | |
| ENST00000617556.4:c.1158G>T | ENSP00000480525.1:p.Thr386= | |
| ENST00000617928.4:c.2451G>T | ENSP00000481038.1:p.Thr817= | |
| ENST00000619290.4:n.844G>T | ||
| ENST00000619348.4:n.1598G>T | ||
| NM_001033028.1:c.1158G>T | NP_001028200.1:p.Thr386= | |
| NM_001287810.1:c.2451G>T | NP_001274739.1:p.Thr817= | |
| NM_014608.3:c.2451G>T | NP_055423.1:p.Thr817= | |
| XM_011543873.1:c.2850G>T | XP_011542175.1:p.Thr950= | |
| XM_011543874.1:c.2850G>T | XP_011542176.1:p.Thr950= | |
| XM_011543875.1:c.2850G>T | XP_011542177.1:p.Thr950= | |
| XM_011543876.1:c.2445G>T | XP_011542178.1:p.Thr815= | |
| NM_001033028.2:c.1158G>T | NP_001028200.1:p.Thr386= | |
| NM_001287810.3:c.2451G>T | NP_001274739.1:p.Thr817= | |
| NM_001324119.2:c.2553G>T | NP_001311048.1:p.Thr851= | |
| NM_001324120.2:c.2451G>T | NP_001311049.1:p.Thr817= | |
| NM_001324122.2:c.771G>T | NP_001311051.1:p.Thr257= | |
| NM_001324123.2:c.2451G>T | NP_001311052.1:p.Thr817= | |
| NM_001324124.2:c.2361G>T | NP_001311053.1:p.Thr787= | |
| NM_001324125.2:c.2085G>T | NP_001311054.1:p.Thr695= | |
| NM_001324126.2:c.2349G>T | NP_001311055.1:p.Thr783= | |
| NM_014608.5:c.2451G>T | NP_055423.1:p.Thr817= | |
| XM_011543873.3:c.2850G>T | XP_011542175.1:p.Thr950= | |
| XM_011543874.2:c.2850G>T | XP_011542176.1:p.Thr950= | |
| XM_011543876.3:c.2547G>T | XP_011542178.2:p.Thr849= | |
| XM_017022023.2:c.2952G>T | XP_016877512.1:p.Thr984= | |
| XM_017022024.2:c.2850G>T | XP_016877513.1:p.Thr950= | |
| XM_024449876.1:c.2850G>T | XP_024305644.1:p.Thr950= | |
| XM_024449877.1:c.2451G>T | XP_024305645.1:p.Thr817= | |
| NM_014608.6:c.2451G>T MANE Select | NP_055423.1:p.Thr817= | |
| NM_001287810.4:c.2451G>T | NP_001274739.1:p.Thr817= | |
| NM_001324122.3:c.771G>T | NP_001311051.1:p.Thr257= | |
| NM_001324123.3:c.2451G>T | NP_001311052.1:p.Thr817= | |
| NM_001324124.3:c.2361G>T | NP_001311053.1:p.Thr787= | |
| NM_001324125.3:c.2085G>T | NP_001311054.1:p.Thr695= | |
| NM_001324126.3:c.2349G>T | NP_001311055.1:p.Thr783= | |
| NM_001033028.3:c.1158G>T | NP_001028200.1:p.Thr386= |