Linked Data
dbSNP Id:
rs139402
gnomAD v2:
22-39546145-T-C
gnomAD v3:
22-39150140-T-C
gnomAD v4:
22-39150140-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39150140T>C , CM000684.2:g.39150140T>C | GRCh38 |
| NC_000022.10:g.39546145T>C , CM000684.1:g.39546145T>C | GRCh37 |
| NC_000022.9:g.37876091T>C | NCBI36 |
| NG_051974.1:g.7511A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216133.10:c.70-308A>G MANE Select | ENSP00000216133.5:n.70-308A>G | |
| ENST00000216133.9:c.70-308A>G | ENSP00000216133.5:n.70-308A>G | |
| ENST00000401405.7:c.70-308A>G | ENSP00000384035.3:n.70-308A>G | |
| ENST00000434260.1:c.70-308A>G | ENSP00000410896.1:n.70-308A>G | |
| ENST00000477827.1:n.166-308A>G | ||
| ENST00000482294.1:n.300-308A>G | ||
| NM_175709.3:c.70-308A>G | NP_783640.1:n.70-308A>G | |
| XM_005261413.3:c.70-308A>G | XP_005261470.1:n.70-308A>G | |
| XM_006724174.2:c.70-308A>G | XP_006724237.1:n.70-308A>G | |
| XM_006724175.2:c.70-308A>G | XP_006724238.1:n.70-308A>G | |
| XM_006724176.2:c.70-308A>G | XP_006724239.1:n.70-308A>G | |
| XM_006724177.2:c.70-308A>G | XP_006724240.1:n.70-308A>G | |
| XM_006724178.2:c.70-308A>G | XP_006724241.1:n.70-308A>G | |
| XM_011530025.1:c.70-308A>G | XP_011528327.1:n.70-308A>G | |
| NM_001346743.1:c.70-308A>G | NP_001333672.1:n.70-308A>G | |
| NM_001346744.1:c.70-308A>G | NP_001333673.1:n.70-308A>G | |
| NM_175709.4:c.70-308A>G | NP_783640.1:n.70-308A>G | |
| XM_006724174.4:c.70-308A>G | XP_006724237.1:n.70-308A>G | |
| XM_006724175.4:c.70-308A>G | XP_006724238.1:n.70-308A>G | |
| XM_006724176.4:c.70-308A>G | XP_006724239.1:n.70-308A>G | |
| XM_006724177.4:c.70-308A>G | XP_006724240.1:n.70-308A>G | |
| XM_006724178.4:c.70-308A>G | XP_006724241.1:n.70-308A>G | |
| XM_011530025.3:c.70-308A>G | XP_011528327.1:n.70-308A>G | |
| NM_175709.5:c.70-308A>G MANE Select | NP_783640.1:n.70-308A>G | |
| NM_001346743.2:c.70-308A>G | NP_001333672.1:n.70-308A>G | |
| NM_001346744.2:c.70-308A>G | NP_001333673.1:n.70-308A>G |