Linked Data
ClinVar Variation Id:
214468
dbSNP Id:
rs863224025
gnomAD v3:
16-1984232-G-C
gnomAD v4:
16-1984232-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1984232G>C , CM000678.2:g.1984232G>C | GRCh38 |
| NC_000016.9:g.2034233G>C , CM000678.1:g.2034233G>C | GRCh37 |
| NC_000016.8:g.1974234G>C | NCBI36 |
| NG_016288.1:g.5084G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248114.7:c.14G>C MANE Select | ENSP00000248114.6:p.Gly5Ala | |
| ENST00000248114.6:c.14G>C | ENSP00000248114.6:p.Gly5Ala | |
| ENST00000569451.1:c.14G>C | ENSP00000456432.1:p.Gly5Ala | |
| NM_005262.2:c.14G>C | NP_005253.3:p.Gly5Ala | |
| NM_005262.3:c.14G>C MANE Select | NP_005253.3:p.Gly5Ala |