Linked Data
dbSNP Id:
rs2230345
ExAC:
10:121086097 A / T
gnomAD v2:
10-121086097-A-T
gnomAD v3:
10-119326585-A-T
gnomAD v4:
10-119326585-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119326585A>T , CM000672.2:g.119326585A>T | GRCh38 |
| NC_000010.10:g.121086097A>T , CM000672.1:g.121086097A>T | GRCh37 |
| NC_000010.9:g.121076087A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392870.3:c.122A>T MANE Select | ENSP00000376609.2:p.Gln41Leu | |
| ENST00000392870.2:c.122A>T | ENSP00000376609.2:p.Gln41Leu | |
| NM_005308.2:c.122A>T | NP_005299.1:p.Gln41Leu | |
| XM_005269707.1:c.122A>T | XP_005269764.1:p.Gln41Leu | |
| XM_005269708.1:c.53-54230A>T | XP_005269765.1:n.53-54230A>T | |
| XM_005269707.2:c.122A>T | XP_005269764.1:p.Gln41Leu | |
| NM_005308.3:c.122A>T MANE Select | NP_005299.1:p.Gln41Leu |