Linked Data
ClinVar Variation Id:
1881
dbSNP Id:
rs121918252
ExAC:
6:49399544 C / A
gnomAD v2:
6-49399544-C-A
gnomAD v3:
6-49431831-C-A
gnomAD v4:
6-49431831-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49431831C>A , CM000668.2:g.49431831C>A | GRCh38 |
| NC_000006.11:g.49399544C>A , CM000668.1:g.49399544C>A | GRCh37 |
| NC_000006.10:g.49507503C>A | NCBI36 |
| NG_007100.1:g.36309G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.2150G>T MANE Select | ENSP00000274813.3:p.Gly717Val | |
| ENST00000274813.3:c.2150G>T | ENSP00000274813.3:p.Gly717Val | |
| NM_000255.3:c.2150G>T | NP_000246.2:p.Gly717Val | |
| XM_005249143.2:c.2150G>T | XP_005249200.1:p.Gly717Val | |
| XM_005249143.3:c.2150G>T | XP_005249200.1:p.Gly717Val | |
| NM_000255.4:c.2150G>T MANE Select | NP_000246.2:p.Gly717Val |