Linked Data
ClinVar Variation Id:
509560
dbSNP Id:
rs202187965
ExAC:
10:26998706 T / G
gnomAD v2:
10-26998706-T-G
gnomAD v3:
10-26709777-T-G
gnomAD v4:
10-26709777-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.26709777T>G , CM000672.2:g.26709777T>G | GRCh38 |
| NC_000010.10:g.26998706T>G , CM000672.1:g.26998706T>G | GRCh37 |
| NC_000010.9:g.27038712T>G | NCBI36 |
| NG_008972.1:g.17112T>G | |
| NG_008972.2:g.17112T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376215.10:c.467+9T>G MANE Select | ENSP00000365388.5:n.467+9T>G | |
| ENST00000376215.9:c.467+9T>G | ENSP00000365388.5:n.467+9T>G | |
| ENST00000473224.1:n.218+9T>G | ||
| NM_014317.3:c.467+9T>G | NP_055132.2:n.467+9T>G | |
| XM_005252439.2:c.-127+9T>G | XP_005252496.1:n.-127+9T>G | |
| XM_011519437.1:c.98+9T>G | XP_011517739.1:n.98+9T>G | |
| XR_428636.2:n.755+9T>G | ||
| XR_930486.1:n.755+9T>G | ||
| NM_001321978.1:c.467+9T>G | NP_001308907.1:n.467+9T>G | |
| NM_001321979.1:c.-127+9T>G | NP_001308908.1:n.-127+9T>G | |
| NM_014317.4:c.467+9T>G | NP_055132.2:n.467+9T>G | |
| XM_011519437.3:c.98+9T>G | XP_011517739.1:n.98+9T>G | |
| XM_017016011.2:c.146+9T>G | XP_016871500.1:n.146+9T>G | |
| XM_024447922.1:c.467+9T>G | XP_024303690.1:n.467+9T>G | |
| XM_024447923.1:c.-127+9T>G | XP_024303691.1:n.-127+9T>G | |
| XR_428636.4:n.755+9T>G | ||
| NM_014317.5:c.467+9T>G MANE Select | NP_055132.2:n.467+9T>G | |
| NM_001321978.2:c.467+9T>G | NP_001308907.1:n.467+9T>G | |
| NM_001321979.2:c.-127+9T>G | NP_001308908.1:n.-127+9T>G |