Linked Data
dbSNP Id:
rs776575704
ExAC:
1:59042408 G / C
gnomAD v2:
1-59042408-G-C
gnomAD v3:
1-58576736-G-C
gnomAD v4:
1-58576736-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58576736G>C , CM000663.2:g.58576736G>C | GRCh38 |
| NC_000001.10:g.59042408G>C , CM000663.1:g.59042408G>C | GRCh37 |
| NC_000001.9:g.58814996G>C | NCBI36 |
| NG_016237.1:g.5759C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371225.4:c.421C>G MANE Select | ENSP00000360269.2:p.Leu141Val | |
| ENST00000371225.3:c.421C>G | ENSP00000360269.2:p.Leu141Val | |
| NM_002353.2:c.421C>G | NP_002344.2:p.Leu141Val | |
| NM_002353.3:c.421C>G MANE Select | NP_002344.2:p.Leu141Val |