Linked Data
ClinVar Variation Id:
206450
dbSNP Id:
rs769266169
ExAC:
17:46024035 C / T
gnomAD v2:
17-46024035-C-T
gnomAD v4:
17-47946669-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946669C>T , CM000679.2:g.47946669C>T | GRCh38 |
| NC_000017.10:g.46024035C>T , CM000679.1:g.46024035C>T | GRCh37 |
| NC_000017.9:g.43379034C>T | NCBI36 |
| NG_008744.1:g.10147C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.544C>T | ENSP00000225573.5:p.Arg182Cys | |
| ENST00000434554.7:c.619C>T | ENSP00000399960.3:p.Arg207Cys | |
| ENST00000582171.6:c.*338C>T | ENSP00000463994.1:n.*338C>T | |
| ENST00000583599.6:c.433C>T | ENSP00000463919.2:p.Arg145Cys | |
| ENST00000584061.6:c.604C>T | ENSP00000463972.2:p.Arg202Cys | |
| ENST00000584806.2:n.342C>T | ||
| ENST00000641285.1:n.453C>T | ||
| ENST00000641305.1:n.2172C>T | ||
| ENST00000641323.1:c.*692C>T | ENSP00000492965.1:n.*692C>T | |
| ENST00000641427.1:n.673C>T | ||
| ENST00000641511.1:c.405C>T | ||
| ENST00000641703.1:c.389C>T | ENSP00000493219.1:n.389C>T | |
| ENST00000641709.1:c.*495C>T | ENSP00000493349.1:n.*495C>T | |
| ENST00000641856.1:c.*1181C>T | ENSP00000493224.1:n.*1181C>T | |
| ENST00000642017.2:c.673C>T MANE Select | ENSP00000493302.2:p.Arg225Cys | |
| ENST00000225573.4:c.673C>T | ENSP00000225573.4:p.Arg225Cys | |
| ENST00000434554.6:c.544C>T | ENSP00000399960.2:p.Arg182Cys | |
| ENST00000582171.5:c.*338C>T | ENSP00000463994.1:n.*338C>T | |
| ENST00000584806.1:n.342C>T | ||
| ENST00000585320.5:c.*155C>T | ENSP00000462345.1:n.*155C>T | |
| NM_018129.3:c.673C>T | NP_060599.1:p.Arg225Cys | |
| XM_005257500.2:c.433C>T | XP_005257557.1:p.Arg145Cys | |
| XM_011524968.1:c.388C>T | XP_011523270.1:p.Arg130Cys | |
| XM_005257500.3:c.433C>T | XP_005257557.1:p.Arg145Cys | |
| XM_011524968.2:c.388C>T | XP_011523270.1:p.Arg130Cys | |
| XM_017024813.1:c.433C>T | XP_016880302.1:p.Arg145Cys | |
| NM_018129.4:c.673C>T MANE Select | NP_060599.1:p.Arg225Cys |