Linked Data
ClinVar Variation Id:
500922
dbSNP Id:
rs776472879
ExAC:
2:71838670 T / C
gnomAD v2:
2-71838670-T-C
gnomAD v4:
2-71611540-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71611540T>C , CM000664.2:g.71611540T>C | GRCh38 |
| NC_000002.11:g.71838670T>C , CM000664.1:g.71838670T>C | GRCh37 |
| NC_000002.10:g.71692178T>C | NCBI36 |
| NG_008694.1:g.162918T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698057.1:c.1549T>C | ENSP00000513536.1:p.Cys517Arg | |
| ENST00000698058.1:c.766T>C | ENSP00000513537.1:p.Cys256Arg | |
| ENST00000698059.1:c.724T>C | ENSP00000513538.1:p.Cys242Arg | |
| ENST00000258104.8:c.4081T>C MANE Plus Clinical | ENSP00000258104.3:p.Cys1361Arg | |
| ENST00000410020.8:c.4135T>C MANE Select | ENSP00000386881.3:p.Cys1379Arg | |
| ENST00000258104.7:c.4081T>C | ENSP00000258104.3:p.Cys1361Arg | |
| ENST00000394120.6:c.4084T>C | ENSP00000377678.2:p.Cys1362Arg | |
| ENST00000409366.5:c.4084T>C | ENSP00000386512.1:p.Cys1362Arg | |
| ENST00000409582.7:c.4132T>C | ENSP00000386547.3:p.Cys1378Arg | |
| ENST00000409651.5:c.4177T>C | ENSP00000386683.1:p.Cys1393Arg | |
| ENST00000409744.5:c.4042T>C | ENSP00000386285.1:p.Cys1348Arg | |
| ENST00000409762.5:c.4132T>C | ENSP00000387137.1:p.Cys1378Arg | |
| ENST00000410020.7:c.4135T>C | ENSP00000386881.3:p.Cys1379Arg | |
| ENST00000410041.1:c.4135T>C | ENSP00000386617.1:p.Cys1379Arg | |
| ENST00000413539.6:c.4174T>C | ENSP00000407046.2:p.Cys1392Arg | |
| ENST00000429174.6:c.4081T>C | ENSP00000398305.2:p.Cys1361Arg | |
| ENST00000468173.1:n.317T>C | ||
| ENST00000472873.5:n.465T>C | ||
| ENST00000479049.6:n.966T>C | ||
| ENST00000487180.5:n.300T>C | ||
| ENST00000494501.5:n.379T>C | ||
| NM_001130455.1:c.4084T>C | NP_001123927.1:p.Cys1362Arg | |
| NM_001130976.1:c.4039T>C | NP_001124448.1:p.Cys1347Arg | |
| NM_001130977.1:c.4039T>C | NP_001124449.1:p.Cys1347Arg | |
| NM_001130978.1:c.4081T>C | NP_001124450.1:p.Cys1361Arg | |
| NM_001130979.1:c.4174T>C | NP_001124451.1:p.Cys1392Arg | |
| NM_001130980.1:c.4132T>C | NP_001124452.1:p.Cys1378Arg | |
| NM_001130981.1:c.4132T>C | NP_001124453.1:p.Cys1378Arg | |
| NM_001130982.1:c.4177T>C | NP_001124454.1:p.Cys1393Arg | |
| NM_001130983.1:c.4084T>C | NP_001124455.1:p.Cys1362Arg | |
| NM_001130984.1:c.4042T>C | NP_001124456.1:p.Cys1348Arg | |
| NM_001130985.1:c.4135T>C | NP_001124457.1:p.Cys1379Arg | |
| NM_001130986.1:c.4042T>C | NP_001124458.1:p.Cys1348Arg | |
| NM_001130987.1:c.4135T>C | NP_001124459.1:p.Cys1379Arg | |
| NM_003494.3:c.4081T>C | NP_003485.1:p.Cys1361Arg | |
| XM_005264584.3:c.4177T>C | XP_005264641.1:p.Cys1393Arg | |
| XM_005264585.3:c.4174T>C | XP_005264642.1:p.Cys1392Arg | |
| XM_005264584.4:c.4177T>C | XP_005264641.1:p.Cys1393Arg | |
| XM_005264585.5:c.4174T>C | XP_005264642.1:p.Cys1392Arg | |
| XR_001738969.1:n.4335T>C | ||
| NM_001130987.2:c.4135T>C MANE Select | NP_001124459.1:p.Cys1379Arg | |
| NM_001130455.2:c.4084T>C | NP_001123927.1:p.Cys1362Arg | |
| NM_001130976.2:c.4039T>C | NP_001124448.1:p.Cys1347Arg | |
| NM_001130977.2:c.4039T>C | NP_001124449.1:p.Cys1347Arg | |
| NM_001130978.2:c.4081T>C | NP_001124450.1:p.Cys1361Arg | |
| NM_001130979.2:c.4174T>C | NP_001124451.1:p.Cys1392Arg | |
| NM_001130980.2:c.4132T>C | NP_001124452.1:p.Cys1378Arg | |
| NM_001130981.2:c.4132T>C | NP_001124453.1:p.Cys1378Arg | |
| NM_001130982.2:c.4177T>C | NP_001124454.1:p.Cys1393Arg | |
| NM_001130983.2:c.4084T>C | NP_001124455.1:p.Cys1362Arg | |
| NM_001130984.2:c.4042T>C | NP_001124456.1:p.Cys1348Arg | |
| NM_001130985.2:c.4135T>C | NP_001124457.1:p.Cys1379Arg | |
| NM_001130986.2:c.4042T>C | NP_001124458.1:p.Cys1348Arg | |
| NM_003494.4:c.4081T>C MANE Plus Clinical | NP_003485.1:p.Cys1361Arg |