Linked Data
ClinVar Variation Id:
1101581
ClinVar RCV Id:
RCV001424563
dbSNP Id:
rs745647149
ExAC:
4:123664136 C / A
gnomAD v2:
4-123664136-C-A
gnomAD v4:
4-122742981-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122742981C>A , CM000666.2:g.122742981C>A | GRCh38 |
| NC_000004.11:g.123664136C>A , CM000666.1:g.123664136C>A | GRCh37 |
| NC_000004.10:g.123883586C>A | NCBI36 |
| NG_021203.1:g.15280C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314218.8:c.1089C>A MANE Select | ENSP00000319062.3:p.Leu363= | |
| ENST00000314218.7:c.1089C>A | ENSP00000319062.3:p.Leu363= | |
| ENST00000542236.5:c.1089C>A | ENSP00000438273.1:p.Leu363= | |
| NM_001178007.1:c.1089C>A | NP_001171478.1:p.Leu363= | |
| NM_152618.2:c.1089C>A | NP_689831.2:p.Leu363= | |
| XM_011531680.1:c.1089C>A | XP_011529982.1:p.Leu363= | |
| XM_011531680.2:c.1089C>A | XP_011529982.1:p.Leu363= | |
| XM_017007831.1:c.1089C>A | XP_016863320.1:p.Leu363= | |
| NM_152618.3:c.1089C>A MANE Select | NP_689831.2:p.Leu363= | |
| NM_001178007.2:c.1089C>A | NP_001171478.1:p.Leu363= |