Linked Data
dbSNP Id:
rs530286214
ExAC:
19:46270315 T / A
gnomAD v2:
19-46270315-T-A
gnomAD v3:
19-45767057-T-A
gnomAD v4:
19-45767057-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45767057T>A , CM000681.2:g.45767057T>A | GRCh38 |
| NC_000019.9:g.46270315T>A , CM000681.1:g.46270315T>A | GRCh37 |
| NC_000019.8:g.50962155T>A | NCBI36 |
| NG_012745.1:g.7183A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.902A>T MANE Select | ENSP00000316842.4:p.Gln301Leu | |
| ENST00000317578.6:c.902A>T | ENSP00000316842.4:p.Gln301Leu | |
| ENST00000560160.1:c.587-946A>T | ||
| ENST00000560168.1:c.*90A>T | ENSP00000453189.2:n.*90A>T | |
| ENST00000622857.1:c.16-1095A>T | ENSP00000481365.1:n.16-1095A>T | |
| NM_175875.4:c.902A>T | NP_787071.2:p.Gln301Leu | |
| NM_175875.5:c.902A>T MANE Select | NP_787071.3:p.Gln301Leu |