Linked Data
ClinVar Variation Id:
2113303
ClinVar RCV Id:
RCV003027257
dbSNP Id:
rs1177689595
gnomAD v2:
6-33400552-C-T
gnomAD v4:
6-33432775-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33432775C>T , CM000668.2:g.33432775C>T | GRCh38 |
| NC_000006.11:g.33400552C>T , CM000668.1:g.33400552C>T | GRCh37 |
| NC_000006.10:g.33508530C>T | NCBI36 |
| NG_016137.1:g.17706C>T | |
| NG_016137.2:g.17706C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682587.1:c.220C>T | ENSP00000507403.1:p.Leu74= | |
| ENST00000418600.7:c.478C>T | ENSP00000403636.3:p.Leu160= | |
| ENST00000449372.7:c.478C>T | ENSP00000416519.4:p.Leu160= | |
| ENST00000629380.3:c.478C>T | ENSP00000486463.1:p.Leu160= | |
| ENST00000638142.2:c.478C>T | ENSP00000490803.1:p.Leu160= | |
| ENST00000644458.1:c.478C>T | ENSP00000495541.1:p.Leu160= | |
| ENST00000645250.1:c.301C>T | ENSP00000494861.1:p.Leu101= | |
| ENST00000646630.1:c.478C>T MANE Select | ENSP00000496007.1:p.Leu160= | |
| ENST00000293748.9:c.433C>T | ENSP00000293748.6:p.Leu145= | |
| ENST00000418600.6:c.478C>T | ENSP00000403636.3:p.Leu160= | |
| ENST00000428982.4:c.301C>T | ENSP00000412475.2:p.Leu101= | |
| ENST00000449372.6:c.478C>T | ENSP00000416519.3:p.Leu160= | |
| ENST00000479510.2:n.673C>T | ||
| ENST00000628646.2:c.478C>T | ENSP00000486431.1:p.Leu160= | |
| ENST00000629380.2:c.478C>T | ENSP00000486463.1:p.Leu160= | |
| NM_006772.2:c.478C>T | NP_006763.2:p.Leu160= | |
| NM_001130066.1:c.478C>T | NP_001123538.1:p.Leu160= | |
| NM_001130066.2:c.478C>T | NP_001123538.1:p.Leu160= | |
| NM_006772.3:c.478C>T MANE Select | NP_006763.2:p.Leu160= |