Linked Data
ClinVar Variation Id:
1591895
ClinVar RCV Id:
RCV002096422
dbSNP Id:
rs756636259
ExAC:
19:45515294 G / A
gnomAD v2:
19-45515294-G-A
gnomAD v3:
19-45012036-G-A
gnomAD v4:
19-45012036-G-A
COSMIC:
COSM4079258
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012036G>A , CM000681.2:g.45012036G>A | GRCh38 |
| NC_000019.9:g.45515294G>A , CM000681.1:g.45515294G>A | GRCh37 |
| NC_000019.8:g.50207134G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.255G>A | ENSP00000423287.1:p.Ala85= | |
| ENST00000700471.1:c.102G>A | ENSP00000515004.1:p.Ala34= | |
| ENST00000221452.13:c.264G>A MANE Select | ENSP00000221452.7:p.Ala88= | |
| ENST00000221452.12:c.264G>A | ENSP00000221452.7:p.Ala88= | |
| ENST00000505236.1:c.255G>A | ENSP00000423287.1:p.Ala85= | |
| ENST00000509480.5:c.*351G>A | ENSP00000427348.1:n.*351G>A | |
| ENST00000625761.2:c.264G>A | ENSP00000485826.1:p.Ala88= | |
| NM_006509.3:c.264G>A | NP_006500.2:p.Ala88= | |
| XM_005259127.2:c.255G>A | XP_005259184.1:p.Ala85= | |
| XM_005259128.2:c.264G>A | XP_005259185.1:p.Ala88= | |
| XM_005259127.3:c.255G>A | XP_005259184.1:p.Ala85= | |
| NM_006509.4:c.264G>A MANE Select | NP_006500.2:p.Ala88= |