Linked Data
dbSNP Id:
rs2055153754
gnomAD v4:
19-18784923-A-G
MyVariant Identifiers:
chr19:g.18895733A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18784923A>G , CM000681.2:g.18784923A>G | GRCh38 |
| NC_000019.9:g.18895733A>G , CM000681.1:g.18895733A>G | GRCh37 |
| NC_000019.8:g.18756733A>G | NCBI36 |
| NG_007070.1:g.11382T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1887T>C MANE Select | ENSP00000222271.2:p.Ala629= | |
| ENST00000222271.6:c.1887T>C | ENSP00000222271.2:p.Ala629= | |
| ENST00000425807.1:c.1728T>C | ENSP00000403792.1:p.Ala576= | |
| ENST00000542601.6:c.1788T>C | ENSP00000439156.2:p.Ala596= | |
| NM_000095.2:c.1887T>C | NP_000086.2:p.Ala629= | |
| NM_000095.3:c.1887T>C MANE Select | NP_000086.2:p.Ala629= |