Linked Data
dbSNP Id:
rs967068781
gnomAD v2:
5-78422633-G-GA
gnomAD v3:
5-79126810-G-GA
gnomAD v4:
5-79126810-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79126815dup , CM000667.2:g.79126815dup | GRCh38 |
| NC_000005.9:g.78422638dup , CM000667.1:g.78422638dup | GRCh37 |
| NC_000005.8:g.78458394dup | NCBI36 |
| NG_029156.1:g.20035dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274353.10:c.808+587dup (BHMT) MANE Select | ENSP00000274353.5:n.808+587dup | |
| ENST00000274353.9:c.808+587dup (BHMT) | ENSP00000274353.5:n.808+587dup | |
| ENST00000518707.1:n.129-5459dup (DMGDH) | ||
| ENST00000520388.5:n.229-5459dup (DMGDH) | ||
| ENST00000521279.1:n.268+587dup (BHMT) | ||
| ENST00000524080.1:c.349+587dup (BHMT) | ENSP00000428240.1:n.349+587dup | |
| NM_001713.2:c.808+587dup (BHMT) | NP_001704.2:n.808+587dup | |
| NM_001713.3:c.808+587dup (BHMT) MANE Select | NP_001704.2:n.808+587dup |