Linked Data
dbSNP Id:
rs545913434
ExAC:
19:18266983 C / G
gnomAD v2:
19-18266983-C-G
gnomAD v4:
19-18156173-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156173C>G , CM000681.2:g.18156173C>G | GRCh38 |
| NC_000019.9:g.18266983C>G , CM000681.1:g.18266983C>G | GRCh37 |
| NC_000019.8:g.18127983C>G | NCBI36 |
| NG_033010.1:g.7996C>G | |
| NG_033010.2:g.7996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.294C>G MANE Select | ENSP00000222254.6:p.Ala98= | |
| ENST00000617130.5:c.294C>G | ENSP00000477864.2:p.Ala98= | |
| ENST00000617642.2:c.294C>G | ENSP00000484714.2:p.Ala98= | |
| ENST00000222254.12:c.294C>G | ENSP00000222254.6:p.Ala98= | |
| ENST00000426902.5:c.294C>G | ENSP00000395636.1:p.Ala98= | |
| ENST00000593731.1:c.294C>G | ENSP00000471914.1:p.Ala98= | |
| ENST00000617130.4:c.294C>G | ENSP00000477864.1:p.Ala98= | |
| ENST00000617642.1:c.294C>G | ENSP00000484714.1:p.Ala98= | |
| NM_005027.3:c.294C>G | NP_005018.1:p.Ala98= | |
| NR_073517.1:n.834C>G | ||
| NM_005027.4:c.294C>G MANE Select | NP_005018.2:p.Ala98= | |
| NR_073517.2:n.849C>G | ||
| NR_162071.1:n.849C>G |