Linked Data
ClinVar Variation Id:
691508
dbSNP Id:
rs760413427
ExAC:
7:107314632 A / G
gnomAD v2:
7-107314632-A-G
gnomAD v4:
7-107674187-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107674187A>G , CM000669.2:g.107674187A>G | GRCh38 |
| NC_000007.13:g.107314632A>G , CM000669.1:g.107314632A>G | GRCh37 |
| NC_000007.12:g.107101868A>G | NCBI36 |
| NG_008489.1:g.18553A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.439A>G MANE Select | ENSP00000494017.1:p.Met147Val | |
| ENST00000265715.7:c.439A>G | ENSP00000265715.3:p.Met147Val | |
| NM_000441.1:c.439A>G | NP_000432.1:p.Met147Val | |
| XM_005250425.1:c.439A>G | XP_005250482.1:p.Met147Val | |
| XM_006716025.2:c.439A>G | XP_006716088.1:p.Met147Val | |
| XM_005250425.2:c.439A>G | XP_005250482.1:p.Met147Val | |
| XM_006716025.3:c.439A>G | XP_006716088.1:p.Met147Val | |
| XM_017012318.1:c.439A>G | XP_016867807.1:p.Met147Val | |
| NM_000441.2:c.439A>G MANE Select | NP_000432.1:p.Met147Val |