Linked Data
dbSNP Id:
rs760895186
ExAC:
3:190122705 A / G
gnomAD v2:
3-190122705-A-G
gnomAD v4:
3-190404916-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404916A>G , CM000665.2:g.190404916A>G | GRCh38 |
| NC_000003.11:g.190122705A>G , CM000665.1:g.190122705A>G | GRCh37 |
| NC_000003.10:g.191605399A>G | NCBI36 |
| NG_008149.1:g.21865A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.372A>G MANE Select | ENSP00000264734.3:p.Leu124= | |
| ENST00000456423.2:c.115-4987A>G | ENSP00000414136.2:n.115-4987A>G | |
| ENST00000264734.2:c.582A>G | ENSP00000264734.2:p.Leu194= | |
| ENST00000456423.1:c.325-4987A>G | ENSP00000414136.1:n.325-4987A>G | |
| ENST00000468220.1:n.564A>G | ||
| NM_006580.3:c.582A>G | NP_006571.1:p.Leu194= | |
| NM_001378492.1:c.372A>G | NP_001365421.1:p.Leu124= | |
| NM_001378493.1:c.372A>G | NP_001365422.1:p.Leu124= | |
| NM_006580.4:c.372A>G MANE Select | NP_006571.2:p.Leu124= |