Linked Data
ClinVar Variation Id:
502574
dbSNP Id:
rs150557072
ExAC:
9:102888756 T / C
gnomAD v2:
9-102888756-T-C
gnomAD v3:
9-100126474-T-C
gnomAD v4:
9-100126474-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.100126474T>C , CM000671.2:g.100126474T>C | GRCh38 |
| NC_000009.11:g.102888756T>C , CM000671.1:g.102888756T>C | GRCh37 |
| NC_000009.10:g.101928577T>C | NCBI36 |
| NG_008316.1:g.32246T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262457.7:c.198T>C MANE Select | ENSP00000262457.2:p.Ala66= | |
| ENST00000262456.6:c.198T>C | ENSP00000262456.2:p.Ala66= | |
| ENST00000262457.6:c.198T>C | ENSP00000262457.2:p.Ala66= | |
| ENST00000374921.3:c.198T>C | ENSP00000364056.3:p.Ala66= | |
| ENST00000460636.2:n.181T>C | ||
| ENST00000466647.5:n.336T>C | ||
| ENST00000496467.5:n.378T>C | ||
| NM_014425.3:c.198T>C | NP_055240.2:p.Ala66= | |
| NM_183245.2:c.198T>C | NP_899068.1:p.Ala66= | |
| NR_051962.1:n.419T>C | ||
| XM_005251923.3:c.198T>C | XP_005251980.1:p.Ala66= | |
| XM_005251924.3:c.-176T>C | XP_005251981.1:n.-176T>C | |
| XM_011518531.1:c.198T>C | XP_011516833.1:p.Ala66= | |
| XM_011518532.1:c.198T>C | XP_011516834.1:p.Ala66= | |
| XM_011518533.1:c.198T>C | XP_011516835.1:p.Ala66= | |
| XM_011518534.1:c.-295T>C | XP_011516836.1:n.-295T>C | |
| XM_011518535.1:c.-179T>C | XP_011516837.1:n.-179T>C | |
| XM_011518536.1:c.-176T>C | XP_011516838.1:n.-176T>C | |
| XM_011518537.1:c.-271T>C | XP_011516839.1:n.-271T>C | |
| XM_011518539.1:c.-171T>C | XP_011516841.1:n.-171T>C | |
| XM_011518540.1:c.-174T>C | XP_011516842.1:n.-174T>C | |
| XM_011518542.1:c.-364T>C | XP_011516844.1:n.-364T>C | |
| XM_011518543.1:c.-792T>C | XP_011516845.1:n.-792T>C | |
| XR_242585.1:n.454T>C | ||
| XR_242586.1:n.454T>C | ||
| XR_428522.1:n.454T>C | ||
| NM_001318381.1:c.-179T>C | NP_001305310.1:n.-179T>C | |
| NM_001318382.1:c.-792T>C | NP_001305311.1:n.-792T>C | |
| NM_014425.4:c.198T>C | NP_055240.2:p.Ala66= | |
| NR_134606.1:n.454T>C | ||
| NM_014425.5:c.198T>C MANE Select | NP_055240.2:p.Ala66= | |
| NM_001318381.2:c.-179T>C | NP_001305310.1:n.-179T>C | |
| NM_001318382.2:c.-792T>C | NP_001305311.1:n.-792T>C | |
| NR_134606.2:n.396T>C |