Linked Data
ClinVar Variation Id:
786461
ClinVar RCV Id:
RCV000968520
dbSNP Id:
rs61743816
ExAC:
1:36521340 C / T
gnomAD v2:
1-36521340-C-T
gnomAD v3:
1-36055739-C-T
gnomAD v4:
1-36055739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36055739C>T , CM000663.2:g.36055739C>T | GRCh38 |
| NC_000001.10:g.36521340C>T , CM000663.1:g.36521340C>T | GRCh37 |
| NC_000001.9:g.36293927C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373191.9:c.2577C>T MANE Select | ENSP00000362287.3:p.Phe859= | |
| ENST00000246314.10:c.1875C>T | ENSP00000246314.6:p.Phe625= | |
| ENST00000373191.8:c.2577C>T | ENSP00000362287.3:p.Phe859= | |
| ENST00000634486.1:c.*2572C>T | ENSP00000489286.1:n.*2572C>T | |
| NM_024852.3:c.2577C>T | NP_079128.2:p.Phe859= | |
| NM_177422.2:c.1875C>T | NP_803171.1:p.Phe625= | |
| XM_005270575.2:c.2577C>T | XP_005270632.1:p.Phe859= | |
| XM_005270576.2:c.1752C>T | XP_005270633.1:p.Phe584= | |
| XM_011540879.1:c.2532C>T | XP_011539181.1:p.Phe844= | |
| XM_011540880.1:c.2532C>T | XP_011539182.1:p.Phe844= | |
| XM_011540881.1:c.2370C>T | XP_011539183.1:p.Phe790= | |
| XM_011540882.1:c.1875C>T | XP_011539184.1:p.Phe625= | |
| XM_005270575.4:c.2577C>T | XP_005270632.1:p.Phe859= | |
| XM_005270576.4:c.1752C>T | XP_005270633.1:p.Phe584= | |
| XM_011540879.3:c.2532C>T | XP_011539181.1:p.Phe844= | |
| XM_011540882.3:c.1875C>T | XP_011539184.1:p.Phe625= | |
| XM_017000523.2:c.2577C>T | XP_016856012.1:p.Phe859= | |
| XM_017000524.2:c.1875C>T | XP_016856013.1:p.Phe625= | |
| XM_017000525.2:c.1875C>T | XP_016856014.1:p.Phe625= | |
| XM_017000526.2:c.1875C>T | XP_016856015.1:p.Phe625= | |
| XM_017000527.2:c.1875C>T | XP_016856016.1:p.Phe625= | |
| XM_017000528.2:c.1752C>T | XP_016856017.1:p.Phe584= | |
| NM_024852.4:c.2577C>T MANE Select | NP_079128.2:p.Phe859= | |
| NM_177422.3:c.1875C>T | NP_803171.1:p.Phe625= |