Linked Data
ClinVar Variation Id:
2267517
ClinVar RCV Id:
RCV002804160
dbSNP Id:
rs549692468
ExAC:
1:209803111 G / A
gnomAD v2:
1-209803111-G-A
gnomAD v3:
1-209629766-G-A
gnomAD v4:
1-209629766-G-A
COSMIC:
COSM3482881
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209629766G>A , CM000663.2:g.209629766G>A | GRCh38 |
| NC_000001.10:g.209803111G>A , CM000663.1:g.209803111G>A | GRCh37 |
| NC_000001.9:g.207869734G>A | NCBI36 |
| NG_007116.1:g.27710C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.1103C>T MANE Select | ENSP00000348384.3:p.Pro368Leu | |
| ENST00000356082.8:c.1103C>T | ENSP00000348384.3:p.Pro368Leu | |
| ENST00000367030.7:c.1103C>T | ENSP00000355997.3:p.Pro368Leu | |
| ENST00000391911.5:c.1103C>T | ENSP00000375778.1:p.Pro368Leu | |
| NM_000228.2:c.1103C>T | NP_000219.2:p.Pro368Leu | |
| NM_001017402.1:c.1103C>T | NP_001017402.1:p.Pro368Leu | |
| NM_001127641.1:c.1103C>T | NP_001121113.1:p.Pro368Leu | |
| XM_005273124.3:c.1103C>T | XP_005273181.1:p.Pro368Leu | |
| XM_005273124.4:c.1103C>T | XP_005273181.1:p.Pro368Leu | |
| XM_017001272.2:c.911C>T | XP_016856761.1:p.Pro304Leu | |
| NM_000228.3:c.1103C>T MANE Select | NP_000219.2:p.Pro368Leu | |
| NM_001017402.2:c.1103C>T | NP_001017402.1:p.Pro368Leu |