Linked Data
dbSNP Id:
rs28399454
ExAC:
19:41351267 C / T
gnomAD v2:
19-41351267-C-T
gnomAD v3:
19-40845362-C-T
gnomAD v4:
19-40845362-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40845362C>T , CM000681.2:g.40845362C>T | GRCh38 |
| NC_000019.9:g.41351267C>T , CM000681.1:g.41351267C>T | GRCh37 |
| NC_000019.8:g.46043107C>T | NCBI36 |
| NG_008377.1:g.10086G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301141.10:c.1093G>A MANE Select | ENSP00000301141.4:p.Val365Met | |
| ENST00000301141.9:c.1093G>A | ENSP00000301141.4:p.Val365Met | |
| ENST00000596719.5:n.944G>A | ||
| ENST00000601627.1:c.119+43947C>T | ||
| ENST00000610301.1:c.1093G>A | ENSP00000477899.1:p.Val365Met | |
| NM_000762.5:c.1093G>A | NP_000753.3:p.Val365Met | |
| NM_000762.6:c.1093G>A MANE Select | NP_000753.3:p.Val365Met |