Linked Data
ClinVar Variation Id:
95599
dbSNP Id:
rs2491097
ExAC:
9:103002451 C / T
gnomAD v2:
9-103002451-C-T
gnomAD v3:
9-100240169-C-T
gnomAD v4:
9-100240169-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100240169C>T , CM000671.2:g.100240169C>T | GRCh38 |
| NC_000009.11:g.103002451C>T , CM000671.1:g.103002451C>T | GRCh37 |
| NC_000009.10:g.102042272C>T | NCBI36 |
| NG_008316.1:g.145941C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262457.7:c.725C>T MANE Select | ENSP00000262457.2:p.Ser242Leu | |
| ENST00000262456.6:c.725C>T | ENSP00000262456.2:p.Ser242Leu | |
| ENST00000262457.6:c.725C>T | ENSP00000262457.2:p.Ser242Leu | |
| NM_014425.3:c.725C>T | NP_055240.2:p.Ser242Leu | |
| NM_183245.2:c.725C>T | NP_899068.1:p.Ser242Leu | |
| NR_051962.1:n.1034C>T | ||
| XM_005251923.3:c.725C>T | XP_005251980.1:p.Ser242Leu | |
| XM_005251924.3:c.437C>T | XP_005251981.1:p.Ser146Leu | |
| XM_011518531.1:c.725C>T | XP_011516833.1:p.Ser242Leu | |
| XM_011518532.1:c.725C>T | XP_011516834.1:p.Ser242Leu | |
| XM_011518533.1:c.725C>T | XP_011516835.1:p.Ser242Leu | |
| XM_011518534.1:c.437C>T | XP_011516836.1:p.Ser146Leu | |
| XM_011518535.1:c.437C>T | XP_011516837.1:p.Ser146Leu | |
| XM_011518536.1:c.437C>T | XP_011516838.1:p.Ser146Leu | |
| XM_011518537.1:c.437C>T | XP_011516839.1:p.Ser146Leu | |
| XM_011518538.1:c.437C>T | XP_011516840.1:p.Ser146Leu | |
| XM_011518539.1:c.404C>T | XP_011516841.1:p.Ser135Leu | |
| XM_011518540.1:c.404C>T | XP_011516842.1:p.Ser135Leu | |
| XM_011518541.1:c.404C>T | XP_011516843.1:p.Ser135Leu | |
| XM_011518542.1:c.437C>T | XP_011516844.1:p.Ser146Leu | |
| XM_011518543.1:c.-265C>T | XP_011516845.1:n.-265C>T | |
| XR_242585.1:n.981C>T | ||
| XR_242586.1:n.981C>T | ||
| XR_428522.1:n.981C>T | ||
| NM_001318381.1:c.437C>T | NP_001305310.1:p.Ser146Leu | |
| NM_001318382.1:c.-265C>T | NP_001305311.1:n.-265C>T | |
| NM_014425.4:c.725C>T | NP_055240.2:p.Ser242Leu | |
| NR_134606.1:n.981C>T | ||
| NM_014425.5:c.725C>T MANE Select | NP_055240.2:p.Ser242Leu | |
| NM_001318381.2:c.437C>T | NP_001305310.1:p.Ser146Leu | |
| NM_001318382.2:c.-265C>T | NP_001305311.1:n.-265C>T | |
| NR_134606.2:n.923C>T |