Linked Data
dbSNP Id:
rs905069869
gnomAD v2:
19-49248746-G-C
gnomAD v3:
19-48745489-G-C
gnomAD v4:
19-48745489-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48745489G>C , CM000681.2:g.48745489G>C | GRCh38 |
| NC_000019.9:g.49248746G>C , CM000681.1:g.49248746G>C | GRCh37 |
| NC_000019.8:g.53940558G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332955.7:c.235+136C>G MANE Select | ENSP00000327786.2:n.235+136C>G | |
| ENST00000332955.6:c.235+136C>G | ENSP00000327786.2:n.235+136C>G | |
| ENST00000595517.5:c.169-201C>G | ENSP00000471815.1:n.169-201C>G | |
| ENST00000595937.5:c.235+136C>G | ENSP00000470144.1:n.235+136C>G | |
| ENST00000597553.1:n.692C>G | ||
| ENST00000602105.1:c.-104-201C>G | ENSP00000471134.1:n.-104-201C>G | |
| NM_182575.2:c.235+136C>G | NP_872381.2:n.235+136C>G | |
| XM_005258793.3:c.313+136C>G | XP_005258850.1:n.313+136C>G | |
| XM_005258797.3:c.-104-201C>G | XP_005258854.1:n.-104-201C>G | |
| XM_005258798.3:c.-104-201C>G | XP_005258855.1:n.-104-201C>G | |
| XM_011526811.1:c.334+136C>G | XP_011525113.1:n.334+136C>G | |
| XM_011526812.1:c.235+136C>G | XP_011525114.1:n.235+136C>G | |
| XM_011526813.1:c.235+136C>G | XP_011525115.1:n.235+136C>G | |
| XM_011526814.1:c.36C>G | XP_011525116.1:p.Pro12= | |
| XM_011526815.1:c.-108C>G | XP_011525117.1:n.-108C>G | |
| XM_011526816.1:c.-104-201C>G | XP_011525118.1:n.-104-201C>G | |
| XM_011526817.1:c.-104-201C>G | XP_011525119.1:n.-104-201C>G | |
| XR_243923.2:n.1248+136C>G | ||
| XR_430196.2:n.1248+136C>G | ||
| XR_935799.1:n.1248+136C>G | ||
| NM_001321864.1:c.-104-201C>G | NP_001308793.1:n.-104-201C>G | |
| NM_001321865.1:c.-325+136C>G | NP_001308794.1:n.-325+136C>G | |
| NR_135832.1:n.242-201C>G | ||
| NM_182575.3:c.235+136C>G MANE Select | NP_872381.2:n.235+136C>G |