MyVariant.info:
GRCh38
chr21:g.44249746G>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44249746G>A , CM000683.2:g.44249746G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000628202.3:c.910-635C>T MANE Select | ENSP00000486001.1:n.910-635C>T | |
| ENST00000270172.7:c.910-635C>T | ENSP00000270172.3:n.910-635C>T | |
| ENST00000436357.5:c.294-635C>T | ||
| ENST00000628202.2:c.910-635C>T | ENSP00000486001.1:n.910-635C>T | |
| NM_013369.3:c.910-635C>T | NP_037501.2:n.910-635C>T | |
| NM_175867.2:c.910-635C>T | NP_787063.1:n.910-635C>T | |
| XM_011529536.1:c.910-635C>T | XP_011527838.1:n.910-635C>T | |
| NM_013369.4:c.910-635C>T | NP_037501.2:n.910-635C>T | |
| NM_175867.3:c.910-635C>T MANE Select | NP_787063.1:n.910-635C>T |