Linked Data
dbSNP Id:
rs746194631
gnomAD v2:
17-7124837-G-T
gnomAD v3:
17-7221518-G-T
gnomAD v4:
17-7221518-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221518G>T , CM000679.2:g.7221518G>T | GRCh38 |
| NC_000017.10:g.7124837G>T , CM000679.1:g.7124837G>T | GRCh37 |
| NC_000017.9:g.7065561G>T | NCBI36 |
| NG_007975.1:g.6685G>T | |
| NG_008391.2:g.3533C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.478-20G>T MANE Select | ENSP00000349297.5:n.478-20G>T | |
| ENST00000322910.9:c.*433-20G>T | ENSP00000325395.5:n.*433-20G>T | |
| ENST00000350303.9:c.412-20G>T | ENSP00000344152.5:n.412-20G>T | |
| ENST00000356839.9:c.478-20G>T | ENSP00000349297.5:n.478-20G>T | |
| ENST00000543245.6:c.547-20G>T | ENSP00000438689.2:n.547-20G>T | |
| ENST00000577191.5:n.555-20G>T | ||
| ENST00000577433.5:n.686-20G>T | ||
| ENST00000577857.5:n.294-20G>T | ||
| ENST00000579286.5:n.659-20G>T | ||
| ENST00000579886.2:c.316-20G>T | ENSP00000463246.1:n.316-20G>T | |
| ENST00000580365.1:n.209-20G>T | ||
| ENST00000581378.5:c.177-1G>T | ||
| ENST00000581562.5:n.525-434G>T | ||
| ENST00000582166.1:n.459-20G>T | ||
| ENST00000583312.5:c.478-20G>T | ENSP00000467920.1:n.478-20G>T | |
| ENST00000583760.1:n.240G>T | ||
| NM_000018.3:c.478-20G>T | NP_000009.1:n.478-20G>T | |
| NM_001033859.2:c.412-20G>T | NP_001029031.1:n.412-20G>T | |
| NM_001270447.1:c.547-20G>T | NP_001257376.1:n.547-20G>T | |
| NM_001270448.1:c.250-20G>T | NP_001257377.1:n.250-20G>T | |
| XM_006721516.2:c.478-20G>T | XP_006721579.2:n.478-20G>T | |
| XM_011523829.1:c.478-20G>T | XP_011522131.1:n.478-20G>T | |
| XM_011523830.1:c.478-20G>T | XP_011522132.1:n.478-20G>T | |
| XR_934021.1:n.585-20G>T | ||
| XR_934022.1:n.585-20G>T | ||
| XR_934023.1:n.585-20G>T | ||
| XM_006721516.3:c.478-20G>T | XP_006721579.2:n.478-20G>T | |
| XM_011523829.2:c.478-20G>T | XP_011522131.1:n.478-20G>T | |
| XM_011523830.2:c.478-20G>T | XP_011522132.1:n.478-20G>T | |
| XM_024450741.1:c.478-20G>T | XP_024306509.1:n.478-20G>T | |
| XR_934021.2:n.537-20G>T | ||
| XR_934022.2:n.537-20G>T | ||
| XR_934023.2:n.537-20G>T | ||
| NM_000018.4:c.478-20G>T MANE Select | NP_000009.1:n.478-20G>T | |
| NM_001033859.3:c.412-20G>T | NP_001029031.1:n.412-20G>T | |
| NM_001270447.2:c.547-20G>T | NP_001257376.1:n.547-20G>T | |
| NM_001270448.2:c.250-20G>T | NP_001257377.1:n.250-20G>T |