Linked Data
ClinVar Variation Id:
6397
ClinVar RCV Id:
RCV000006769
dbSNP Id:
rs80356520
ExAC:
3:58121853 C / T
gnomAD v2:
3-58121853-C-T
gnomAD v3:
3-58136126-C-T
gnomAD v4:
3-58136126-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58136126C>T , CM000665.2:g.58136126C>T | GRCh38 |
| NC_000003.11:g.58121853C>T , CM000665.1:g.58121853C>T | GRCh37 |
| NC_000003.10:g.58096893C>T | NCBI36 |
| NG_012801.1:g.132727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682297.1:n.243C>T | ||
| ENST00000682868.1:n.6861C>T | ||
| ENST00000682871.1:c.4912C>T | ENSP00000507805.1:p.Arg1638Ter | |
| ENST00000684506.1:c.*3444C>T | ENSP00000507728.1:n.*3444C>T | |
| ENST00000684607.1:c.4912C>T | ENSP00000508224.1:p.Arg1638Ter | |
| ENST00000295956.9:c.4819C>T MANE Select | ENSP00000295956.5:p.Arg1607Ter | |
| ENST00000295956.8:c.4819C>T | ENSP00000295956.4:p.Arg1607Ter | |
| ENST00000358537.7:c.4819C>T | ENSP00000351339.3:p.Arg1607Ter | |
| ENST00000429972.6:c.4819C>T | ENSP00000415599.2:p.Arg1607Ter | |
| ENST00000481470.5:n.1159C>T | ||
| ENST00000490882.5:c.4912C>T | ENSP00000420213.1:p.Arg1638Ter | |
| ENST00000493452.5:c.4312C>T | ENSP00000418510.1:p.Arg1438Ter | |
| NM_001164317.1:c.4912C>T | NP_001157789.1:p.Arg1638Ter | |
| NM_001164318.1:c.4819C>T | NP_001157790.1:p.Arg1607Ter | |
| NM_001164319.1:c.4819C>T | NP_001157791.1:p.Arg1607Ter | |
| NM_001457.3:c.4819C>T | NP_001448.2:p.Arg1607Ter | |
| XM_005264977.1:c.4912C>T | XP_005265034.1:p.Arg1638Ter | |
| XM_005264978.1:c.4912C>T | XP_005265035.1:p.Arg1638Ter | |
| XM_005264981.1:c.4912C>T | XP_005265038.1:p.Arg1638Ter | |
| XR_940396.1:n.5057C>T | ||
| XM_005264978.2:c.4912C>T | XP_005265035.1:p.Arg1638Ter | |
| XR_001740065.1:n.5057C>T | ||
| XR_940396.2:n.5057C>T | ||
| NM_001164317.2:c.4912C>T | NP_001157789.1:p.Arg1638Ter | |
| NM_001164318.2:c.4819C>T | NP_001157790.1:p.Arg1607Ter | |
| NM_001164319.2:c.4819C>T | NP_001157791.1:p.Arg1607Ter | |
| NM_001457.4:c.4819C>T MANE Select | NP_001448.2:p.Arg1607Ter |