Linked Data
ClinVar Variation Id:
500547
dbSNP Id:
rs778185705
ExAC:
2:71871157 C / T
gnomAD v2:
2-71871157-C-T
gnomAD v3:
2-71644027-C-T
gnomAD v4:
2-71644027-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71644027C>T , CM000664.2:g.71644027C>T | GRCh38 |
| NC_000002.11:g.71871157C>T , CM000664.1:g.71871157C>T | GRCh37 |
| NC_000002.10:g.71724665C>T | NCBI36 |
| NG_008694.1:g.195405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2004C>T | ENSP00000513536.1:p.Cys668= | |
| ENST00000698058.1:c.1221C>T | ENSP00000513537.1:p.Cys407= | |
| ENST00000698059.1:c.1329C>T | ENSP00000513538.1:p.Cys443= | |
| ENST00000258104.8:c.4473C>T MANE Plus Clinical | ENSP00000258104.3:p.Cys1491= | |
| ENST00000410020.8:c.4590C>T MANE Select | ENSP00000386881.3:p.Cys1530= | |
| ENST00000258104.7:c.4473C>T | ENSP00000258104.3:p.Cys1491= | |
| ENST00000394120.6:c.4476C>T | ENSP00000377678.2:p.Cys1492= | |
| ENST00000409366.5:c.4539C>T | ENSP00000386512.1:p.Cys1513= | |
| ENST00000409582.7:c.4587C>T | ENSP00000386547.3:p.Cys1529= | |
| ENST00000409651.5:c.4569C>T | ENSP00000386683.1:p.Cys1523= | |
| ENST00000409744.5:c.4497C>T | ENSP00000386285.1:p.Cys1499= | |
| ENST00000409762.5:c.4524C>T | ENSP00000387137.1:p.Cys1508= | |
| ENST00000410020.7:c.4590C>T | ENSP00000386881.3:p.Cys1530= | |
| ENST00000410041.1:c.4527C>T | ENSP00000386617.1:p.Cys1509= | |
| ENST00000413539.6:c.4566C>T | ENSP00000407046.2:p.Cys1522= | |
| ENST00000429174.6:c.4536C>T | ENSP00000398305.2:p.Cys1512= | |
| ENST00000468173.1:n.772C>T | ||
| ENST00000479049.6:n.1358C>T | ||
| NM_001130455.1:c.4476C>T | NP_001123927.1:p.Cys1492= | |
| NM_001130976.1:c.4431C>T | NP_001124448.1:p.Cys1477= | |
| NM_001130977.1:c.4494C>T | NP_001124449.1:p.Cys1498= | |
| NM_001130978.1:c.4536C>T | NP_001124450.1:p.Cys1512= | |
| NM_001130979.1:c.4566C>T | NP_001124451.1:p.Cys1522= | |
| NM_001130980.1:c.4524C>T | NP_001124452.1:p.Cys1508= | |
| NM_001130981.1:c.4587C>T | NP_001124453.1:p.Cys1529= | |
| NM_001130982.1:c.4569C>T | NP_001124454.1:p.Cys1523= | |
| NM_001130983.1:c.4539C>T | NP_001124455.1:p.Cys1513= | |
| NM_001130984.1:c.4497C>T | NP_001124456.1:p.Cys1499= | |
| NM_001130985.1:c.4527C>T | NP_001124457.1:p.Cys1509= | |
| NM_001130986.1:c.4434C>T | NP_001124458.1:p.Cys1478= | |
| NM_001130987.1:c.4590C>T | NP_001124459.1:p.Cys1530= | |
| NM_003494.3:c.4473C>T | NP_003485.1:p.Cys1491= | |
| XM_005264584.3:c.4632C>T | XP_005264641.1:p.Cys1544= | |
| XM_005264585.3:c.4629C>T | XP_005264642.1:p.Cys1543= | |
| XM_005264584.4:c.4632C>T | XP_005264641.1:p.Cys1544= | |
| XM_005264585.5:c.4629C>T | XP_005264642.1:p.Cys1543= | |
| XR_001738969.1:n.4790C>T | ||
| NM_001130987.2:c.4590C>T MANE Select | NP_001124459.1:p.Cys1530= | |
| NM_001130455.2:c.4476C>T | NP_001123927.1:p.Cys1492= | |
| NM_001130976.2:c.4431C>T | NP_001124448.1:p.Cys1477= | |
| NM_001130977.2:c.4494C>T | NP_001124449.1:p.Cys1498= | |
| NM_001130978.2:c.4536C>T | NP_001124450.1:p.Cys1512= | |
| NM_001130979.2:c.4566C>T | NP_001124451.1:p.Cys1522= | |
| NM_001130980.2:c.4524C>T | NP_001124452.1:p.Cys1508= | |
| NM_001130981.2:c.4587C>T | NP_001124453.1:p.Cys1529= | |
| NM_001130982.2:c.4569C>T | NP_001124454.1:p.Cys1523= | |
| NM_001130983.2:c.4539C>T | NP_001124455.1:p.Cys1513= | |
| NM_001130984.2:c.4497C>T | NP_001124456.1:p.Cys1499= | |
| NM_001130985.2:c.4527C>T | NP_001124457.1:p.Cys1509= | |
| NM_001130986.2:c.4434C>T | NP_001124458.1:p.Cys1478= | |
| NM_003494.4:c.4473C>T MANE Plus Clinical | NP_003485.1:p.Cys1491= |