Linked Data
dbSNP Id:
rs585800
gnomAD v2:
5-78427208-T-A
gnomAD v3:
5-79131385-T-A
gnomAD v4:
5-79131385-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79131385T>A , CM000667.2:g.79131385T>A | GRCh38 |
| NC_000005.9:g.78427208T>A , CM000667.1:g.78427208T>A | GRCh37 |
| NC_000005.8:g.78462964T>A | NCBI36 |
| NG_029156.1:g.24605T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274353.10:c.*269T>A (BHMT) MANE Select | ENSP00000274353.5:n.*269T>A | |
| ENST00000274353.9:c.*269T>A (BHMT) | ENSP00000274353.5:n.*269T>A | |
| ENST00000518707.1:n.129-10033A>T (DMGDH) | ||
| ENST00000520388.5:n.229-10033A>T (DMGDH) | ||
| ENST00000524080.1:c.*269T>A (BHMT) | ENSP00000428240.1:n.*269T>A | |
| NM_001713.2:c.*269T>A (BHMT) | NP_001704.2:n.*269T>A | |
| NM_001713.3:c.*269T>A (BHMT) MANE Select | NP_001704.2:n.*269T>A |