Linked Data
ClinVar Variation Id:
361018
ClinVar RCV Id:
RCV000307465
RCV000360049
RCV000597633
RCV001095294
RCV001272329
RCV001507323
RCV003902403
dbSNP Id:
rs376416252
ExAC:
7:95799393 C / T
gnomAD v2:
7-95799393-C-T
gnomAD v3:
7-96170081-C-T
gnomAD v4:
7-96170081-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96170081C>T , CM000669.2:g.96170081C>T | GRCh38 |
| NC_000007.13:g.95799393C>T , CM000669.1:g.95799393C>T | GRCh37 |
| NC_000007.12:g.95637329C>T | NCBI36 |
| NG_012247.1:g.157067G>A | |
| NG_012247.2:g.157067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1275G>A MANE Select | ENSP00000265631.6:p.Ser425= | |
| ENST00000265631.9:c.1275G>A | ENSP00000265631.5:p.Ser425= | |
| ENST00000416240.6:c.1278G>A | ENSP00000400101.2:p.Ser426= | |
| ENST00000484495.5:n.428G>A | ||
| ENST00000490072.5:n.342G>A | ||
| ENST00000492869.1:n.396G>A | ||
| NM_001160210.1:c.1278G>A | NP_001153682.1:p.Ser426= | |
| NM_014251.2:c.1275G>A | NP_055066.1:p.Ser425= | |
| NR_027662.1:n.1350G>A | ||
| XM_006715831.2:c.1308G>A | XP_006715894.1:p.Ser436= | |
| XM_011515727.1:c.1308G>A | XP_011514029.1:p.Ser436= | |
| XM_011515728.1:c.423G>A | XP_011514030.1:p.Ser141= | |
| XM_006715831.4:c.1308G>A | XP_006715894.1:p.Ser436= | |
| XM_011515727.3:c.1308G>A | XP_011514029.1:p.Ser436= | |
| XM_017011663.1:c.1266G>A | XP_016867152.1:p.Ser422= | |
| XM_017011664.2:c.423G>A | XP_016867153.1:p.Ser141= | |
| XM_017011665.1:c.423G>A | XP_016867154.1:p.Ser141= | |
| XR_001744525.2:n.1446G>A | ||
| XR_002956405.1:n.2079G>A | ||
| NM_014251.3:c.1275G>A MANE Select | NP_055066.1:p.Ser425= | |
| NR_027662.2:n.1301G>A | ||
| NM_001160210.2:c.1278G>A | NP_001153682.1:p.Ser426= |