Linked Data
ClinVar Variation Id:
318299
dbSNP Id:
rs75645968
ExAC:
16:20362106 A / G
gnomAD v2:
16-20362106-A-G
gnomAD v3:
16-20350784-A-G
gnomAD v4:
16-20350784-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20350784A>G , CM000678.2:g.20350784A>G | GRCh38 |
| NC_000016.9:g.20362106A>G , CM000678.1:g.20362106A>G | GRCh37 |
| NC_000016.8:g.20269607A>G | NCBI36 |
| NG_008151.1:g.6932T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396138.9:c.-47T>C MANE Select | ENSP00000379442.5:n.-47T>C | |
| ENST00000577168.2:c.-39-8T>C | ENSP00000459738.2:n.-39-8T>C | |
| ENST00000302509.8:c.-47T>C | ENSP00000306279.4:n.-47T>C | |
| ENST00000396134.6:c.-47T>C | ENSP00000379438.2:n.-47T>C | |
| ENST00000396138.8:c.101T>C | ENSP00000379442.4:p.Phe34Ser | |
| ENST00000570689.5:c.-39-8T>C | ENSP00000460548.1:n.-39-8T>C | |
| ENST00000570757.5:c.-47T>C | ENSP00000459724.1:n.-47T>C | |
| ENST00000570972.2:c.-39-8T>C | ENSP00000458695.2:n.-39-8T>C | |
| ENST00000571174.5:c.-39-8T>C | ENSP00000458939.1:n.-39-8T>C | |
| ENST00000573567.5:c.-39-8T>C | ENSP00000460374.1:n.-39-8T>C | |
| ENST00000574195.5:c.-47T>C | ENSP00000460845.1:n.-47T>C | |
| ENST00000576546.1:c.-47T>C | ENSP00000461120.1:n.-47T>C | |
| ENST00000576688.2:c.-39-8T>C | ENSP00000461641.1:n.-39-8T>C | |
| ENST00000577168.1:c.46-8T>C | ENSP00000459738.1:n.46-8T>C | |
| NM_001008389.2:c.-39-8T>C | NP_001008390.1:n.-39-8T>C | |
| NM_001278614.1:c.-47T>C | NP_001265543.1:n.-47T>C | |
| NM_003361.3:c.-47T>C | NP_003352.2:n.-47T>C | |
| XM_011545934.1:c.46-8T>C | XP_011544236.1:n.46-8T>C | |
| XM_011545935.1:c.-47T>C | XP_011544237.1:n.-47T>C | |
| XM_011545936.1:c.-39-8T>C | XP_011544238.1:n.-39-8T>C | |
| XM_011545937.1:c.-39-8T>C | XP_011544239.1:n.-39-8T>C | |
| XM_011545938.1:c.-39-8T>C | XP_011544240.1:n.-39-8T>C | |
| XM_011545939.1:c.46-8T>C | XP_011544241.1:n.46-8T>C | |
| XM_011545940.1:c.101T>C | XP_011544242.1:p.Phe34Ser | |
| XM_011545934.2:c.-39-8T>C | XP_011544236.2:n.-39-8T>C | |
| XM_011545940.2:c.-47T>C | XP_011544242.2:n.-47T>C | |
| XM_024450433.1:c.-47T>C | XP_024306201.1:n.-47T>C | |
| NM_001008389.3:c.-39-8T>C | NP_001008390.1:n.-39-8T>C | |
| NM_001278614.2:c.-47T>C | NP_001265543.1:n.-47T>C | |
| NM_001378232.1:c.-39-8T>C | NP_001365161.1:n.-39-8T>C | |
| NM_001378233.1:c.-47T>C | NP_001365162.1:n.-47T>C | |
| NM_001378234.1:c.-39-8T>C | NP_001365163.1:n.-39-8T>C | |
| NM_001378235.1:c.-47T>C | NP_001365164.1:n.-47T>C | |
| NM_001378237.1:c.-39-8T>C | NP_001365166.1:n.-39-8T>C | |
| NM_003361.4:c.-47T>C MANE Select | NP_003352.2:n.-47T>C | |
| NR_165456.1:n.187-8T>C |