Linked Data
ClinVar Variation Id:
712441
ClinVar RCV Id:
RCV000884404
dbSNP Id:
rs115421646
ExAC:
3:132218118 C / T
gnomAD v2:
3-132218118-C-T
gnomAD v3:
3-132499274-C-T
gnomAD v4:
3-132499274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.132499274C>T , CM000665.2:g.132499274C>T | GRCh38 |
| NC_000003.11:g.132218118C>T , CM000665.1:g.132218118C>T | GRCh37 |
| NC_000003.10:g.133700808C>T | NCBI36 |
| NG_051045.1:g.86748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260818.11:c.4305C>T MANE Select | ENSP00000260818.6:p.Leu1435= | |
| ENST00000650455.1:c.*2579C>T | ENSP00000496825.1:n.*2579C>T | |
| ENST00000260818.10:c.4305C>T | ENSP00000260818.6:p.Leu1435= | |
| NM_015268.3:c.4305C>T | NP_056083.3:p.Leu1435= | |
| XM_005247245.3:c.4320C>T | XP_005247302.1:p.Leu1440= | |
| NM_001329126.1:c.4320C>T | NP_001316055.1:p.Leu1440= | |
| XM_017006036.1:c.2274C>T | XP_016861525.1:p.Leu758= | |
| NM_015268.4:c.4305C>T MANE Select | NP_056083.3:p.Leu1435= | |
| NM_001329126.2:c.4320C>T | NP_001316055.1:p.Leu1440= |