Linked Data
ClinVar Variation Id:
2784380
ClinVar RCV Id:
RCV003660342
dbSNP Id:
rs778988148
ExAC:
19:45515325 G / T
gnomAD v2:
19-45515325-G-T
gnomAD v3:
19-45012067-G-T
gnomAD v4:
19-45012067-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012067G>T , CM000681.2:g.45012067G>T | GRCh38 |
| NC_000019.9:g.45515325G>T , CM000681.1:g.45515325G>T | GRCh37 |
| NC_000019.8:g.50207165G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.286G>T | ENSP00000423287.1:p.Ala96Ser | |
| ENST00000700471.1:c.133G>T | ENSP00000515004.1:p.Ala45Ser | |
| ENST00000221452.13:c.295G>T MANE Select | ENSP00000221452.7:p.Ala99Ser | |
| ENST00000221452.12:c.295G>T | ENSP00000221452.7:p.Ala99Ser | |
| ENST00000505236.1:c.286G>T | ENSP00000423287.1:p.Ala96Ser | |
| ENST00000509480.5:c.*382G>T | ENSP00000427348.1:n.*382G>T | |
| ENST00000625761.2:c.295G>T | ENSP00000485826.1:p.Ala99Ser | |
| NM_006509.3:c.295G>T | NP_006500.2:p.Ala99Ser | |
| XM_005259127.2:c.286G>T | XP_005259184.1:p.Ala96Ser | |
| XM_005259128.2:c.295G>T | XP_005259185.1:p.Ala99Ser | |
| XM_005259127.3:c.286G>T | XP_005259184.1:p.Ala96Ser | |
| NM_006509.4:c.295G>T MANE Select | NP_006500.2:p.Ala99Ser |