Linked Data
ClinVar Variation Id:
1121969
ClinVar RCV Id:
RCV001452429
dbSNP Id:
rs550491448
ExAC:
20:44685054 G / A
gnomAD v2:
20-44685054-G-A
gnomAD v3:
20-46056415-G-A
gnomAD v4:
20-46056415-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056415G>A , CM000682.2:g.46056415G>A | GRCh38 |
| NC_000020.10:g.44685054G>A , CM000682.1:g.44685054G>A | GRCh37 |
| NC_000020.9:g.44118461G>A | NCBI36 |
| NG_046341.1:g.39726G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.2961G>A MANE Select | ENSP00000243964.4:p.Pro987= | |
| ENST00000243964.6:c.2961G>A | ENSP00000243964.3:p.Pro987= | |
| ENST00000454036.6:c.3030G>A | ENSP00000387694.1:p.Pro1010= | |
| ENST00000616201.4:c.1298-2241G>A | ENSP00000484585.1:n.1298-2241G>A | |
| ENST00000616202.4:c.613-2066G>A | ENSP00000478369.1:n.613-2066G>A | |
| ENST00000616933.4:c.*2279G>A | ENSP00000477569.1:n.*2279G>A | |
| ENST00000626937.2:c.510-3184G>A | ENSP00000485953.1:n.510-3184G>A | |
| ENST00000628413.1:n.477G>A | ||
| NM_001134771.1:c.3030G>A | NP_001128243.1:p.Pro1010= | |
| NM_020708.4:c.2961G>A | NP_065759.1:p.Pro987= | |
| XM_017027981.1:c.3030G>A | XP_016883470.1:p.Pro1010= | |
| NM_001134771.2:c.3030G>A | NP_001128243.1:p.Pro1010= | |
| NM_020708.5:c.2961G>A MANE Select | NP_065759.1:p.Pro987= |