Linked Data
dbSNP Id:
rs373216514
ExAC:
8:87683246 C / A
gnomAD v2:
8-87683246-C-A
gnomAD v4:
8-86671018-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86671018C>A , CM000670.2:g.86671018C>A | GRCh38 |
| NC_000008.10:g.87683246C>A , CM000670.1:g.87683246C>A | GRCh37 |
| NC_000008.9:g.87752362C>A | NCBI36 |
| NG_016980.1:g.77658G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.419G>T MANE Select | ENSP00000316605.5:p.Arg140Leu | |
| ENST00000680314.1:n.180G>T | ||
| ENST00000681746.1:c.419G>T | ENSP00000505959.1:p.Arg140Leu | |
| ENST00000320005.5:c.419G>T | ENSP00000316605.5:p.Arg140Leu | |
| NM_019098.4:c.419G>T | NP_061971.3:p.Arg140Leu | |
| XM_011517138.1:c.5G>T | XP_011515440.1:p.Arg2Leu | |
| XM_011517138.2:c.5G>T | XP_011515440.1:p.Arg2Leu | |
| NM_019098.5:c.419G>T MANE Select | NP_061971.3:p.Arg140Leu |