Linked Data
dbSNP Id:
rs767313988
ExAC:
22:43558829 G / A
gnomAD v2:
22-43558829-G-A
gnomAD v3:
22-43162823-G-A
gnomAD v4:
22-43162823-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43162823G>A , CM000684.2:g.43162823G>A | GRCh38 |
| NC_000022.10:g.43558829G>A , CM000684.1:g.43558829G>A | GRCh37 |
| NC_000022.9:g.41888773G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337554.8:c.342G>A MANE Select | ENSP00000338004.3:p.Leu114= | |
| ENST00000329563.8:c.342G>A | ENSP00000328973.4:p.Leu114= | |
| ENST00000337554.7:c.342G>A | ENSP00000338004.3:p.Leu114= | |
| ENST00000396265.4:c.342G>A | ENSP00000379563.4:p.Leu114= | |
| ENST00000583777.5:c.30G>A | ENSP00000463495.1:p.Leu10= | |
| NM_000714.5:c.342G>A | NP_000705.2:p.Leu114= | |
| NM_001256530.1:c.342G>A | NP_001243459.1:p.Leu114= | |
| NM_001256531.1:c.342G>A | NP_001243460.1:p.Leu114= | |
| NR_046308.1:n.251G>A | ||
| NM_000714.6:c.342G>A MANE Select | NP_000705.2:p.Leu114= | |
| NR_046308.2:n.206G>A |