Linked Data
dbSNP Id:
rs756490555
ExAC:
1:59042459 C / G
gnomAD v2:
1-59042459-C-G
gnomAD v3:
1-58576787-C-G
gnomAD v4:
1-58576787-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576787C>G , CM000663.2:g.58576787C>G | GRCh38 |
| NC_000001.10:g.59042459C>G , CM000663.1:g.59042459C>G | GRCh37 |
| NC_000001.9:g.58815047C>G | NCBI36 |
| NG_016237.1:g.5708G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.370G>C MANE Select | ENSP00000360269.2:p.Val124Leu | |
| ENST00000371225.3:c.370G>C | ENSP00000360269.2:p.Val124Leu | |
| NM_002353.2:c.370G>C | NP_002344.2:p.Val124Leu | |
| NM_002353.3:c.370G>C MANE Select | NP_002344.2:p.Val124Leu |