Linked Data
dbSNP Id:
rs2055176161
gnomAD v3:
19-18787546-C-T
gnomAD v4:
19-18787546-C-T
MyVariant Identifiers:
chr19:g.18898355C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787546C>T , CM000681.2:g.18787546C>T | GRCh38 |
| NC_000019.9:g.18898355C>T , CM000681.1:g.18898355C>T | GRCh37 |
| NC_000019.8:g.18759355C>T | NCBI36 |
| NG_007070.1:g.8760G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1080G>A MANE Select | ENSP00000222271.2:p.Lys360= | |
| ENST00000222271.6:c.1080G>A | ENSP00000222271.2:p.Lys360= | |
| ENST00000425807.1:c.921G>A | ENSP00000403792.1:p.Lys307= | |
| ENST00000542601.6:c.981G>A | ENSP00000439156.2:p.Lys327= | |
| NM_000095.2:c.1080G>A | NP_000086.2:p.Lys360= | |
| NM_000095.3:c.1080G>A MANE Select | NP_000086.2:p.Lys360= |