Linked Data
ClinVar Variation Id:
262868
dbSNP Id:
rs77513082
ExAC:
4:3495182 C / T
gnomAD v2:
4-3495182-C-T
gnomAD v3:
4-3493455-C-T
gnomAD v4:
4-3493455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3493455C>T , CM000666.2:g.3493455C>T | GRCh38 |
| NC_000004.11:g.3495182C>T , CM000666.1:g.3495182C>T | GRCh37 |
| NC_000004.10:g.3464980C>T | NCBI36 |
| NG_013072.2:g.35150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340083.6:c.1469C>T MANE Select | ENSP00000344432.5:p.Ser490Leu | |
| ENST00000643608.1:c.1037C>T | ENSP00000495701.1:p.Ser346Leu | |
| ENST00000340083.5:c.1469C>T | ENSP00000344432.5:p.Ser490Leu | |
| ENST00000507039.5:c.*690C>T | ENSP00000423614.1:n.*690C>T | |
| ENST00000512714.1:n.661C>T | ||
| ENST00000515886.5:n.1237C>T | ||
| NM_001164673.1:c.*690C>T | NP_001158145.1:n.*690C>T | |
| NM_001256896.1:c.539C>T | NP_001243825.1:p.Ser180Leu | |
| NM_001301071.1:c.1469C>T | NP_001288000.1:p.Ser490Leu | |
| NM_173660.4:c.1469C>T | NP_775931.3:p.Ser490Leu | |
| XM_011513435.1:c.1469C>T | XP_011511737.1:p.Ser490Leu | |
| XM_011513436.1:c.1469C>T | XP_011511738.1:p.Ser490Leu | |
| XM_011513437.1:c.1055C>T | XP_011511739.1:p.Ser352Leu | |
| NM_001363811.1:c.1037C>T | NP_001350740.1:p.Ser346Leu | |
| XM_011513435.2:c.1469C>T | XP_011511737.1:p.Ser490Leu | |
| XM_011513437.2:c.1055C>T | XP_011511739.1:p.Ser352Leu | |
| NM_173660.5:c.1469C>T MANE Select | NP_775931.3:p.Ser490Leu | |
| NM_001164673.2:c.*690C>T | NP_001158145.1:n.*690C>T | |
| NM_001301071.2:c.1469C>T | NP_001288000.1:p.Ser490Leu | |
| NM_001363811.2:c.1037C>T | NP_001350740.1:p.Ser346Leu | |
| NM_001256896.2:c.539C>T | NP_001243825.1:p.Ser180Leu |