Linked Data
dbSNP Id:
rs753765187
ExAC:
10:115803987 G / T
gnomAD v2:
10-115803987-G-T
gnomAD v3:
10-114044228-G-T
gnomAD v4:
10-114044228-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114044228G>T , CM000672.2:g.114044228G>T | GRCh38 |
| NC_000010.10:g.115803987G>T , CM000672.1:g.115803987G>T | GRCh37 |
| NC_000010.9:g.115793977G>T | NCBI36 |
| NG_012187.1:g.5182G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.96G>T MANE Select | ENSP00000358301.2:p.Leu32= | |
| ENST00000369295.3:c.96G>T | ENSP00000358301.2:p.Leu32= | |
| NM_000684.2:c.96G>T | NP_000675.1:p.Leu32= | |
| NM_000684.3:c.96G>T MANE Select | NP_000675.1:p.Leu32= |