Linked Data
dbSNP Id:
rs752841802
ExAC:
19:41351268 G / A
gnomAD v2:
19-41351268-G-A
gnomAD v3:
19-40845363-G-A
gnomAD v4:
19-40845363-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845363G>A , CM000681.2:g.40845363G>A | GRCh38 |
| NC_000019.9:g.41351268G>A , CM000681.1:g.41351268G>A | GRCh37 |
| NC_000019.8:g.46043108G>A | NCBI36 |
| NG_008377.1:g.10085C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.1092C>T MANE Select | ENSP00000301141.4:p.Asp364= | |
| ENST00000301141.9:c.1092C>T | ENSP00000301141.4:p.Asp364= | |
| ENST00000596719.5:n.943C>T | ||
| ENST00000601627.1:c.119+43948G>A | ||
| ENST00000610301.1:c.1092C>T | ENSP00000477899.1:p.Asp364= | |
| NM_000762.5:c.1092C>T | NP_000753.3:p.Asp364= | |
| NM_000762.6:c.1092C>T MANE Select | NP_000753.3:p.Asp364= |