Linked Data
dbSNP Id:
rs7322722
gnomAD v2:
13-77879376-G-A
gnomAD v3:
13-77305241-G-A
gnomAD v4:
13-77305241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.77305241G>A , CM000675.2:g.77305241G>A | GRCh38 |
| NC_000013.10:g.77879376G>A , CM000675.1:g.77879376G>A | GRCh37 |
| NC_000013.9:g.76777377G>A | NCBI36 |
| NG_053031.1:g.26802C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695079.1:c.303-8567C>T | ENSP00000511683.1:n.303-8567C>T | |
| ENST00000695080.1:c.303-8567C>T | ENSP00000511684.1:n.303-8567C>T | |
| ENST00000695081.1:c.303-8567C>T | ENSP00000511685.1:n.303-8567C>T | |
| ENST00000695090.1:n.213-8567C>T | ||
| ENST00000695091.1:n.49-8567C>T | ||
| ENST00000695094.1:n.49-8567C>T | ||
| ENST00000695095.1:n.316-8567C>T | ||
| ENST00000357337.11:c.303-8567C>T | ENSP00000349892.6:n.303-8567C>T | |
| ENST00000682321.1:c.303-8567C>T | ENSP00000508023.1:n.303-8567C>T | |
| ENST00000683697.1:c.303-8567C>T | ENSP00000508153.1:n.303-8567C>T | |
| ENST00000683823.1:c.303-8567C>T | ENSP00000507196.1:n.303-8567C>T | |
| ENST00000684354.1:c.303-8567C>T | ENSP00000507330.1:n.303-8567C>T | |
| ENST00000544440.7:c.303-8567C>T MANE Select | ENSP00000444596.2:n.303-8567C>T | |
| ENST00000357337.10:c.189-8567C>T | ENSP00000349892.5:n.189-8567C>T | |
| ENST00000491491.1:n.578-8567C>T | ||
| ENST00000544440.6:c.189-8567C>T | ENSP00000444596.1:n.189-8567C>T | |
| NM_015057.4:c.303-8567C>T | NP_055872.4:n.303-8567C>T | |
| XM_005266299.1:c.303-8567C>T | XP_005266356.1:n.303-8567C>T | |
| XM_006719779.1:c.303-8567C>T | XP_006719842.1:n.303-8567C>T | |
| XM_006719780.1:c.303-8567C>T | XP_006719843.1:n.303-8567C>T | |
| XM_006719781.1:c.303-8567C>T | XP_006719844.1:n.303-8567C>T | |
| XM_006719782.1:c.303-8567C>T | XP_006719845.1:n.303-8567C>T | |
| XM_006719783.1:c.303-8567C>T | XP_006719846.1:n.303-8567C>T | |
| XM_006719784.1:c.303-8567C>T | XP_006719847.1:n.303-8567C>T | |
| XM_006719785.1:c.303-8567C>T | XP_006719848.1:n.303-8567C>T | |
| XM_006719786.1:c.303-8567C>T | XP_006719849.1:n.303-8567C>T | |
| XM_006719787.1:c.303-8567C>T | XP_006719850.1:n.303-8567C>T | |
| XM_006719788.1:c.303-8567C>T | XP_006719851.1:n.303-8567C>T | |
| XM_006719789.1:c.303-8567C>T | XP_006719852.1:n.303-8567C>T | |
| XM_011535003.1:c.102-8567C>T | XP_011533305.1:n.102-8567C>T | |
| XM_005266299.3:c.303-8567C>T | XP_005266356.1:n.303-8567C>T | |
| XM_006719779.3:c.303-8567C>T | XP_006719842.1:n.303-8567C>T | |
| XM_006719780.3:c.303-8567C>T | XP_006719843.1:n.303-8567C>T | |
| XM_006719781.3:c.303-8567C>T | XP_006719844.1:n.303-8567C>T | |
| XM_006719782.3:c.303-8567C>T | XP_006719845.1:n.303-8567C>T | |
| XM_006719783.3:c.303-8567C>T | XP_006719846.1:n.303-8567C>T | |
| XM_006719784.3:c.303-8567C>T | XP_006719847.1:n.303-8567C>T | |
| XM_006719785.3:c.303-8567C>T | XP_006719848.1:n.303-8567C>T | |
| XM_006719786.3:c.303-8567C>T | XP_006719849.1:n.303-8567C>T | |
| XM_006719787.3:c.303-8567C>T | XP_006719850.1:n.303-8567C>T | |
| XM_006719788.3:c.303-8567C>T | XP_006719851.1:n.303-8567C>T | |
| XM_006719789.3:c.303-8567C>T | XP_006719852.1:n.303-8567C>T | |
| XM_017020454.2:c.303-8567C>T | XP_016875943.1:n.303-8567C>T | |
| XM_017020455.2:c.303-8567C>T | XP_016875944.1:n.303-8567C>T | |
| XM_017020456.2:c.303-8567C>T | XP_016875945.1:n.303-8567C>T | |
| XM_017020457.2:c.303-8567C>T | XP_016875946.1:n.303-8567C>T | |
| XM_017020458.2:c.303-8567C>T | XP_016875947.1:n.303-8567C>T | |
| XM_017020459.2:c.303-8567C>T | XP_016875948.1:n.303-8567C>T | |
| XM_017020460.2:c.303-8567C>T | XP_016875949.1:n.303-8567C>T | |
| XM_017020461.2:c.303-8567C>T | XP_016875950.1:n.303-8567C>T | |
| XM_017020462.2:c.303-8567C>T | XP_016875951.1:n.303-8567C>T | |
| XM_017020463.2:c.303-8567C>T | XP_016875952.1:n.303-8567C>T | |
| XM_017020464.2:c.303-8567C>T | XP_016875953.1:n.303-8567C>T | |
| XM_017020465.2:c.303-8567C>T | XP_016875954.1:n.303-8567C>T | |
| XM_017020466.2:c.303-8567C>T | XP_016875955.1:n.303-8567C>T | |
| XM_017020467.2:c.303-8567C>T | XP_016875956.1:n.303-8567C>T | |
| NM_015057.5:c.303-8567C>T MANE Select | NP_055872.4:n.303-8567C>T |