Linked Data
dbSNP Id:
rs1877399924
gnomAD v4:
12-115982540-G-A
MyVariant Identifiers:
chr12:g.116420345G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982540G>A , CM000674.2:g.115982540G>A | GRCh38 |
| NC_000012.11:g.116420345G>A , CM000674.1:g.116420345G>A | GRCh37 |
| NC_000012.10:g.114904728G>A | NCBI36 |
| NG_023366.1:g.299647C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.5019C>T MANE Select | ENSP00000281928.3:p.His1673= | |
| ENST00000549786.2:c.4447C>T | ||
| ENST00000648379.1:n.3387C>T | ||
| ENST00000648737.1:n.4783C>T | ||
| ENST00000648825.1:n.1759C>T | ||
| ENST00000648916.1:n.3030C>T | ||
| ENST00000649146.1:n.2262C>T | ||
| ENST00000649607.1:c.3203C>T | ||
| ENST00000649775.1:c.1508C>T | ||
| ENST00000650226.1:c.5019C>T | ENSP00000496981.1:p.His1673= | |
| ENST00000281928.7:c.5019C>T | ENSP00000281928.3:p.His1673= | |
| ENST00000549786.1:c.383C>T | ||
| ENST00000552340.1:c.51C>T | ENSP00000449876.1:p.His17= | |
| NM_015335.4:c.5019C>T | NP_056150.1:p.His1673= | |
| XM_011538080.1:c.5019C>T | XP_011536382.1:p.His1673= | |
| XM_011538081.1:c.5016C>T | XP_011536383.1:p.His1672= | |
| XM_011538082.1:c.4989C>T | XP_011536384.1:p.His1663= | |
| XM_011538080.2:c.5019C>T | XP_011536382.1:p.His1673= | |
| XM_011538081.2:c.5016C>T | XP_011536383.1:p.His1672= | |
| XM_011538082.2:c.4989C>T | XP_011536384.1:p.His1663= | |
| XM_017019090.1:c.5016C>T | XP_016874579.1:p.His1672= | |
| NM_015335.5:c.5019C>T MANE Select | NP_056150.1:p.His1673= |