Linked Data
ClinVar Variation Id:
2232214
ClinVar RCV Id:
RCV002727924
dbSNP Id:
rs1788595268
gnomAD v4:
7-19117281-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117281T>C , CM000669.2:g.19117281T>C | GRCh38 |
| NC_000007.13:g.19156904T>C , CM000669.1:g.19156904T>C | GRCh37 |
| NC_000007.12:g.19123429T>C | NCBI36 |
| NG_008114.1:g.5392A>G | |
| NG_008114.2:g.5392A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.41A>G MANE Select | ENSP00000242261.5:p.Asp14Gly | |
| ENST00000242261.5:c.41A>G | ENSP00000242261.5:p.Asp14Gly | |
| NM_000474.3:c.41A>G | NP_000465.1:p.Asp14Gly | |
| XM_011515496.1:c.41A>G | XP_011513798.1:p.Asp14Gly | |
| NR_149001.1:n.392A>G | ||
| NM_000474.4:c.41A>G MANE Select | NP_000465.1:p.Asp14Gly | |
| NR_149001.2:n.356A>G |