Linked Data
ClinVar Variation Id:
287340
dbSNP Id:
rs149980694
ExAC:
6:35473933 C / T
gnomAD v2:
6-35473933-C-T
gnomAD v3:
6-35506156-C-T
gnomAD v4:
6-35506156-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35506156C>T , CM000668.2:g.35506156C>T | GRCh38 |
| NC_000006.11:g.35473933C>T , CM000668.1:g.35473933C>T | GRCh37 |
| NC_000006.10:g.35581911C>T | NCBI36 |
| NG_009077.1:g.11715G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.846G>A MANE Select | ENSP00000229771.6:p.Pro282= | |
| ENST00000229771.10:c.846G>A | ENSP00000229771.6:p.Pro282= | |
| ENST00000322263.8:c.687G>A | ENSP00000319414.4:p.Pro229= | |
| ENST00000373892.4:n.448G>A | ||
| ENST00000614066.4:c.840G>A | ENSP00000477534.1:p.Pro280= | |
| NM_001289395.1:c.687G>A | NP_001276324.1:p.Pro229= | |
| NM_003322.4:c.846G>A | NP_003313.3:p.Pro282= | |
| NM_003322.5:c.846G>A | NP_003313.3:p.Pro282= | |
| NM_003322.6:c.846G>A MANE Select | NP_003313.3:p.Pro282= | |
| NM_001289395.2:c.687G>A | NP_001276324.1:p.Pro229= |