Linked Data
ClinVar Variation Id:
708621
ClinVar RCV Id:
RCV000879915
dbSNP Id:
rs35336204
ExAC:
19:45515387 G / A
gnomAD v2:
19-45515387-G-A
gnomAD v3:
19-45012129-G-A
gnomAD v4:
19-45012129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45012129G>A , CM000681.2:g.45012129G>A | GRCh38 |
| NC_000019.9:g.45515387G>A , CM000681.1:g.45515387G>A | GRCh37 |
| NC_000019.8:g.50207227G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505236.2:c.348G>A | ENSP00000423287.1:p.Pro116= | |
| ENST00000700471.1:c.195G>A | ENSP00000515004.1:p.Pro65= | |
| ENST00000221452.13:c.357G>A MANE Select | ENSP00000221452.7:p.Pro119= | |
| ENST00000221452.12:c.357G>A | ENSP00000221452.7:p.Pro119= | |
| ENST00000505236.1:c.348G>A | ENSP00000423287.1:p.Pro116= | |
| ENST00000509480.5:c.*444G>A | ENSP00000427348.1:n.*444G>A | |
| ENST00000625761.2:c.357G>A | ENSP00000485826.1:p.Pro119= | |
| NM_006509.3:c.357G>A | NP_006500.2:p.Pro119= | |
| XM_005259127.2:c.348G>A | XP_005259184.1:p.Pro116= | |
| XM_005259128.2:c.357G>A | XP_005259185.1:p.Pro119= | |
| XM_005259127.3:c.348G>A | XP_005259184.1:p.Pro116= | |
| NM_006509.4:c.357G>A MANE Select | NP_006500.2:p.Pro119= |