Linked Data
ClinVar Variation Id:
710155
ClinVar RCV Id:
RCV000881678
dbSNP Id:
rs1441127714
gnomAD v2:
20-44685060-A-G
gnomAD v3:
20-46056421-A-G
gnomAD v4:
20-46056421-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056421A>G , CM000682.2:g.46056421A>G | GRCh38 |
| NC_000020.10:g.44685060A>G , CM000682.1:g.44685060A>G | GRCh37 |
| NC_000020.9:g.44118467A>G | NCBI36 |
| NG_046341.1:g.39732A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2967A>G MANE Select | ENSP00000243964.4:p.Pro989= | |
| ENST00000243964.6:c.2967A>G | ENSP00000243964.3:p.Pro989= | |
| ENST00000454036.6:c.3036A>G | ENSP00000387694.1:p.Pro1012= | |
| ENST00000616201.4:c.1298-2235A>G | ENSP00000484585.1:n.1298-2235A>G | |
| ENST00000616202.4:c.613-2060A>G | ENSP00000478369.1:n.613-2060A>G | |
| ENST00000616933.4:c.*2285A>G | ENSP00000477569.1:n.*2285A>G | |
| ENST00000626937.2:c.510-3178A>G | ENSP00000485953.1:n.510-3178A>G | |
| ENST00000628413.1:n.483A>G | ||
| NM_001134771.1:c.3036A>G | NP_001128243.1:p.Pro1012= | |
| NM_020708.4:c.2967A>G | NP_065759.1:p.Pro989= | |
| XM_017027981.1:c.3036A>G | XP_016883470.1:p.Pro1012= | |
| NM_001134771.2:c.3036A>G | NP_001128243.1:p.Pro1012= | |
| NM_020708.5:c.2967A>G MANE Select | NP_065759.1:p.Pro989= |