Linked Data
ClinVar Variation Id:
315975
dbSNP Id:
rs199635198
ExAC:
15:43038185 C / T
gnomAD v2:
15-43038185-C-T
gnomAD v3:
15-42745987-C-T
gnomAD v4:
15-42745987-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42745987C>T , CM000677.2:g.42745987C>T | GRCh38 |
| NC_000015.9:g.43038185C>T , CM000677.1:g.43038185C>T | GRCh37 |
| NC_000015.8:g.40825477C>T | NCBI36 |
| NG_012664.1:g.179823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267890.11:c.3543G>A MANE Select | ENSP00000267890.6:p.Ser1181= | |
| ENST00000267890.10:c.3543G>A | ENSP00000267890.6:p.Ser1181= | |
| ENST00000622375.4:c.4758G>A | ENSP00000479984.1:p.Ser1586= | |
| NM_173500.3:c.3543G>A | NP_775771.3:p.Ser1181= | |
| XM_005254171.3:c.3561G>A | XP_005254228.1:p.Ser1187= | |
| XM_005254173.3:c.3336G>A | XP_005254230.1:p.Ser1112= | |
| XM_006720402.2:c.3528G>A | XP_006720465.1:p.Ser1176= | |
| XM_006720403.2:c.3336G>A | XP_006720466.1:p.Ser1112= | |
| XM_011521267.1:c.3336G>A | XP_011519569.1:p.Ser1112= | |
| XM_011521268.1:c.3276G>A | XP_011519570.1:p.Ser1092= | |
| XM_011521269.1:c.3264G>A | XP_011519571.1:p.Ser1088= | |
| XM_005254171.5:c.3561G>A | XP_005254228.1:p.Ser1187= | |
| XM_005254173.5:c.3336G>A | XP_005254230.1:p.Ser1112= | |
| XM_006720402.4:c.3528G>A | XP_006720465.1:p.Ser1176= | |
| XM_006720403.4:c.3336G>A | XP_006720466.1:p.Ser1112= | |
| XM_017021950.2:c.3264G>A | XP_016877439.1:p.Ser1088= | |
| XM_024449849.1:c.3543G>A | XP_024305617.1:p.Ser1181= | |
| XM_024449850.1:c.3543G>A | XP_024305618.1:p.Ser1181= | |
| XM_024449851.1:c.3336G>A | XP_024305619.1:p.Ser1112= | |
| NM_173500.4:c.3543G>A MANE Select | NP_775771.3:p.Ser1181= |