MyVariant.info:
GRCh37
chr19:g.12923949C>T
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12813135C>T , CM000681.2:g.12813135C>T | GRCh38 |
| NC_000019.9:g.12923949C>T , CM000681.1:g.12923949C>T | GRCh37 |
| NC_000019.8:g.12784949C>T | NCBI36 |
| NG_012662.1:g.11522C>T , LRG_278:g.11522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221486.6:c.690C>T (RNASEH2A) MANE Select | ENSP00000221486.4:p.Phe230= | |
| ENST00000593017.2:n.976C>T (RNASEH2A) | ||
| ENST00000639767.2:c.*569C>T (THSD8) | ENSP00000491410.2:n.*569C>T | |
| ENST00000643757.1:n.725C>T (RNASEH2A) | ||
| ENST00000646769.1:c.*350C>T (RNASEH2A) | ENSP00000495175.1:n.*350C>T | |
| ENST00000221486.4:c.690C>T (RNASEH2A) | ENSP00000221486.3:p.Phe230= | |
| ENST00000589765.1:n.41+12043G>A (HOOK2) | ||
| ENST00000593017.1:n.1105C>T (RNASEH2A) | ||
| NM_006397.2:c.690C>T , LRG_278t1:c.690C>T (RNASEH2A) | NP_006388.2:p.Phe230= | |
| XM_006722619.2:c.558C>T (RNASEH2A) | XP_006722682.1:p.Phe186= | |
| NM_006397.3:c.690C>T (RNASEH2A) MANE Select | NP_006388.2:p.Phe230= |