Linked Data
dbSNP Id:
rs751055228
ExAC:
1:5923923 G / A
gnomAD v2:
1-5923923-G-A
gnomAD v4:
1-5863863-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.5863863G>A , CM000663.2:g.5863863G>A | GRCh38 |
| NC_000001.10:g.5923923G>A , CM000663.1:g.5923923G>A | GRCh37 |
| NC_000001.9:g.5846510G>A | NCBI36 |
| NG_011724.2:g.133609C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378156.9:c.4140+27C>T MANE Select | ENSP00000367398.4:n.4140+27C>T | |
| ENST00000378156.8:c.4140+27C>T | ENSP00000367398.4:n.4140+27C>T | |
| ENST00000378161.5:n.3318C>T | ||
| ENST00000378169.7:c.*3041+27C>T | ENSP00000367411.3:n.*3041+27C>T | |
| ENST00000460696.1:n.2915C>T | ||
| ENST00000478423.6:n.3872+27C>T | ||
| ENST00000489180.6:c.*1951+27C>T | ENSP00000423747.1:n.*1951+27C>T | |
| NM_001291593.1:c.2601+27C>T | NP_001278522.1:n.2601+27C>T | |
| NM_001291594.1:c.2604+27C>T | NP_001278523.1:n.2604+27C>T | |
| NM_015102.4:c.4140+27C>T | NP_055917.1:n.4140+27C>T | |
| NR_111987.1:n.4955+27C>T | ||
| XM_006710563.2:c.4140+27C>T | XP_006710626.1:n.4140+27C>T | |
| XM_006710565.2:c.4140+27C>T | XP_006710628.1:n.4140+27C>T | |
| XM_011541213.1:c.4137+27C>T | XP_011539515.1:n.4137+27C>T | |
| XM_011541214.1:c.4098+27C>T | XP_011539516.1:n.4098+27C>T | |
| XM_011541215.1:c.4029+27C>T | XP_011539517.1:n.4029+27C>T | |
| XM_011541216.1:c.4140+27C>T | XP_011539518.1:n.4140+27C>T | |
| XM_011541217.1:c.4140+27C>T | XP_011539519.1:n.4140+27C>T | |
| XM_011541218.1:c.4140+27C>T | XP_011539520.1:n.4140+27C>T | |
| XM_011541219.1:c.4086+27C>T | XP_011539521.1:n.4086+27C>T | |
| XM_006710563.3:c.4140+27C>T | XP_006710626.1:n.4140+27C>T | |
| XM_011541216.2:c.4140+27C>T | XP_011539518.1:n.4140+27C>T | |
| XM_011541217.2:c.4140+27C>T | XP_011539519.1:n.4140+27C>T | |
| XM_011541218.2:c.4140+27C>T | XP_011539520.1:n.4140+27C>T | |
| XM_017000996.1:c.4095+27C>T | XP_016856485.1:n.4095+27C>T | |
| XM_017000997.1:c.4140+27C>T | XP_016856486.1:n.4140+27C>T | |
| XM_017000999.1:c.3612+27C>T | XP_016856488.1:n.3612+27C>T | |
| XM_017001000.2:c.3612+27C>T | XP_016856489.1:n.3612+27C>T | |
| XM_017001001.1:c.3342+27C>T | XP_016856490.1:n.3342+27C>T | |
| XM_017001003.1:c.2601+27C>T | XP_016856492.1:n.2601+27C>T | |
| XR_001737114.1:n.4006+27C>T | ||
| XR_001737115.1:n.3991+27C>T | ||
| NM_015102.5:c.4140+27C>T MANE Select | NP_055917.1:n.4140+27C>T | |
| NM_001291593.2:c.2601+27C>T | NP_001278522.1:n.2601+27C>T | |
| NM_001291594.2:c.2604+27C>T | NP_001278523.1:n.2604+27C>T | |
| NR_111987.2:n.4907+27C>T |