Linked Data
ClinVar Variation Id:
343470
dbSNP Id:
rs780837200
ExAC:
3:136016866 C / T
gnomAD v2:
3-136016866-C-T
gnomAD v4:
3-136298024-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.136298024C>T , CM000665.2:g.136298024C>T | GRCh38 |
| NC_000003.11:g.136016866C>T , CM000665.1:g.136016866C>T | GRCh37 |
| NC_000003.10:g.137499556C>T | NCBI36 |
| NG_008939.1:g.52700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251654.9:c.836C>T MANE Select | ENSP00000251654.4:p.Pro279Leu | |
| ENST00000251654.8:c.836C>T | ENSP00000251654.4:p.Pro279Leu | |
| ENST00000462637.5:c.767C>T | ENSP00000420391.1:p.Pro256Leu | |
| ENST00000466072.5:c.836C>T | ENSP00000420158.1:p.Pro279Leu | |
| ENST00000468777.5:c.929C>T | ENSP00000419129.1:p.Pro310Leu | |
| ENST00000469217.5:c.896C>T | ENSP00000419027.1:p.Pro299Leu | |
| ENST00000471595.5:c.836C>T | ENSP00000417549.1:p.Pro279Leu | |
| ENST00000473073.1:n.793C>T | ||
| ENST00000474833.5:n.461C>T | ||
| ENST00000475214.5:n.750C>T | ||
| ENST00000478469.5:c.836C>T | ENSP00000420759.1:p.Pro279Leu | |
| ENST00000482086.5:c.488C>T | ENSP00000417253.1:p.Pro163Leu | |
| ENST00000483687.5:c.779C>T | ENSP00000420639.1:p.Pro260Leu | |
| ENST00000484181.5:c.836C>T | ENSP00000417937.1:p.Pro279Leu | |
| ENST00000490504.5:c.665C>T | ENSP00000418307.1:p.Pro222Leu | |
| NM_000532.4:c.836C>T | NP_000523.2:p.Pro279Leu | |
| NM_001178014.1:c.896C>T | NP_001171485.1:p.Pro299Leu | |
| XM_011512873.1:c.836C>T | XP_011511175.1:p.Pro279Leu | |
| XM_011512873.2:c.836C>T | XP_011511175.1:p.Pro279Leu | |
| NM_000532.5:c.836C>T MANE Select | NP_000523.2:p.Pro279Leu | |
| NM_001178014.2:c.896C>T | NP_001171485.1:p.Pro299Leu |