Linked Data
ClinVar Variation Id:
2980547
ClinVar RCV Id:
RCV003839705
dbSNP Id:
rs779047599
ExAC:
20:44685102 G / A
gnomAD v4:
20-46056463-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056463G>A , CM000682.2:g.46056463G>A | GRCh38 |
| NC_000020.10:g.44685102G>A , CM000682.1:g.44685102G>A | GRCh37 |
| NC_000020.9:g.44118509G>A | NCBI36 |
| NG_046341.1:g.39774G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.3009G>A MANE Select | ENSP00000243964.4:p.Lys1003= | |
| ENST00000243964.6:c.3009G>A | ENSP00000243964.3:p.Lys1003= | |
| ENST00000454036.6:c.3078G>A | ENSP00000387694.1:p.Lys1026= | |
| ENST00000616201.4:c.1298-2193G>A | ENSP00000484585.1:n.1298-2193G>A | |
| ENST00000616202.4:c.613-2018G>A | ENSP00000478369.1:n.613-2018G>A | |
| ENST00000616933.4:c.*2327G>A | ENSP00000477569.1:n.*2327G>A | |
| ENST00000626937.2:c.510-3136G>A | ENSP00000485953.1:n.510-3136G>A | |
| ENST00000628413.1:n.525G>A | ||
| NM_001134771.1:c.3078G>A | NP_001128243.1:p.Lys1026= | |
| NM_020708.4:c.3009G>A | NP_065759.1:p.Lys1003= | |
| XM_017027981.1:c.3078G>A | XP_016883470.1:p.Lys1026= | |
| NM_001134771.2:c.3078G>A | NP_001128243.1:p.Lys1026= | |
| NM_020708.5:c.3009G>A MANE Select | NP_065759.1:p.Lys1003= |