Linked Data
ClinVar Variation Id:
804652
ClinVar RCV Id:
RCV000991727
dbSNP Id:
rs141402160
ExAC:
19:15302615 C / G
gnomAD v2:
19-15302615-C-G
gnomAD v3:
19-15191804-C-G
gnomAD v4:
19-15191804-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15191804C>G , CM000681.2:g.15191804C>G | GRCh38 |
| NC_000019.9:g.15302615C>G , CM000681.1:g.15302615C>G | GRCh37 |
| NC_000019.8:g.15163615C>G | NCBI36 |
| NG_009819.1:g.14178G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.743G>C MANE Select | ENSP00000263388.1:p.Gly248Ala | |
| ENST00000263388.6:c.743G>C | ENSP00000263388.1:p.Gly248Ala | |
| ENST00000601011.1:c.740G>C | ENSP00000473138.1:p.Gly247Ala | |
| NM_000435.2:c.743G>C | NP_000426.2:p.Gly248Ala | |
| XM_005259924.3:c.743G>C | XP_005259981.1:p.Gly248Ala | |
| XM_005259924.4:c.743G>C | XP_005259981.1:p.Gly248Ala | |
| NM_000435.3:c.743G>C MANE Select | NP_000426.2:p.Gly248Ala |