Linked Data
ClinVar Variation Id:
18392
ClinVar RCV Id:
RCV000000003
dbSNP Id:
rs267607078
gnomAD v4:
6-107634825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107634825C>T , CM000668.2:g.107634825C>T | GRCh38 |
| NC_000006.11:g.107956029C>T , CM000668.1:g.107956029C>T | GRCh37 |
| NC_000006.10:g.108062722C>T | NCBI36 |
| NG_028200.1:g.149713C>T | |
| NG_028200.2:g.149713C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317357.10:c.1981C>T MANE Select | ENSP00000318900.5:p.Arg661Ter | |
| ENST00000317357.9:c.1981C>T | ENSP00000318900.5:p.Arg661Ter | |
| NM_018013.3:c.1981C>T | NP_060483.3:p.Arg661Ter | |
| XM_005267041.3:c.2134C>T | XP_005267098.1:p.Arg712Ter | |
| XM_005267042.3:c.2038C>T | XP_005267099.1:p.Arg680Ter | |
| XM_011535920.1:c.2134C>T | XP_011534222.1:p.Arg712Ter | |
| XM_011535921.1:c.2020C>T | XP_011534223.1:p.Arg674Ter | |
| XM_011535922.1:c.1393C>T | XP_011534224.1:p.Arg465Ter | |
| XM_011535923.1:c.1204C>T | XP_011534225.1:p.Arg402Ter | |
| XM_005267041.4:c.2134C>T | XP_005267098.1:p.Arg712Ter | |
| XM_005267042.4:c.2038C>T | XP_005267099.1:p.Arg680Ter | |
| XM_011535920.2:c.2134C>T | XP_011534222.1:p.Arg712Ter | |
| XM_011535921.2:c.2020C>T | XP_011534223.1:p.Arg674Ter | |
| XM_011535923.2:c.1204C>T | XP_011534225.1:p.Arg402Ter | |
| XM_017010991.1:c.1534C>T | XP_016866480.1:p.Arg512Ter | |
| XM_017010992.1:c.1534C>T | XP_016866481.1:p.Arg512Ter | |
| XM_017010993.1:c.1534C>T | XP_016866482.1:p.Arg512Ter | |
| XM_017010994.1:c.1534C>T | XP_016866483.1:p.Arg512Ter | |
| NM_018013.4:c.1981C>T MANE Select | NP_060483.3:p.Arg661Ter |