Linked Data
ClinVar Variation Id:
3210612
ClinVar RCV Id:
RCV004503020
dbSNP Id:
rs2086307482
gnomAD v3:
2-178014324-G-A
gnomAD v4:
2-178014324-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178014324G>A , CM000664.2:g.178014324G>A | GRCh38 |
| NC_000002.11:g.178879051G>A , CM000664.1:g.178879051G>A | GRCh37 |
| NC_000002.10:g.178587297G>A | NCBI36 |
| NG_012168.1:g.99016C>T | |
| NG_012168.2:g.99016C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.1049C>T MANE Select | ENSP00000286063.5:p.Pro350Leu | |
| ENST00000286063.10:c.1049C>T | ENSP00000286063.5:p.Pro350Leu | |
| ENST00000358450.8:c.299C>T | ENSP00000351232.4:p.Pro100Leu | |
| NM_001077197.1:c.299C>T | NP_001070665.1:p.Pro100Leu | |
| NM_016953.3:c.1049C>T | NP_058649.3:p.Pro350Leu | |
| NM_016953.4:c.1049C>T MANE Select | NP_058649.3:p.Pro350Leu | |
| NM_001077197.2:c.299C>T | NP_001070665.1:p.Pro100Leu |