Linked Data
dbSNP Id:
rs1221782723
gnomAD v2:
17-7124810-G-T
gnomAD v3:
17-7221491-G-T
gnomAD v4:
17-7221491-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221491G>T , CM000679.2:g.7221491G>T | GRCh38 |
| NC_000017.10:g.7124810G>T , CM000679.1:g.7124810G>T | GRCh37 |
| NC_000017.9:g.7065534G>T | NCBI36 |
| NG_007975.1:g.6658G>T | |
| NG_008391.2:g.3560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.478-47G>T MANE Select | ENSP00000349297.5:n.478-47G>T | |
| ENST00000322910.9:c.*433-47G>T | ENSP00000325395.5:n.*433-47G>T | |
| ENST00000350303.9:c.412-47G>T | ENSP00000344152.5:n.412-47G>T | |
| ENST00000356839.9:c.478-47G>T | ENSP00000349297.5:n.478-47G>T | |
| ENST00000543245.6:c.547-47G>T | ENSP00000438689.2:n.547-47G>T | |
| ENST00000577191.5:n.555-47G>T | ||
| ENST00000577433.5:n.686-47G>T | ||
| ENST00000577857.5:n.294-47G>T | ||
| ENST00000579286.5:n.659-47G>T | ||
| ENST00000579886.2:c.316-47G>T | ENSP00000463246.1:n.316-47G>T | |
| ENST00000580365.1:n.209-47G>T | ||
| ENST00000581378.5:c.177-28G>T | ||
| ENST00000581562.5:n.524+433G>T | ||
| ENST00000582166.1:n.459-47G>T | ||
| ENST00000583312.5:c.478-47G>T | ENSP00000467920.1:n.478-47G>T | |
| ENST00000583760.1:n.213G>T | ||
| NM_000018.3:c.478-47G>T | NP_000009.1:n.478-47G>T | |
| NM_001033859.2:c.412-47G>T | NP_001029031.1:n.412-47G>T | |
| NM_001270447.1:c.547-47G>T | NP_001257376.1:n.547-47G>T | |
| NM_001270448.1:c.250-47G>T | NP_001257377.1:n.250-47G>T | |
| XM_006721516.2:c.478-47G>T | XP_006721579.2:n.478-47G>T | |
| XM_011523829.1:c.478-47G>T | XP_011522131.1:n.478-47G>T | |
| XM_011523830.1:c.478-47G>T | XP_011522132.1:n.478-47G>T | |
| XR_934021.1:n.585-47G>T | ||
| XR_934022.1:n.585-47G>T | ||
| XR_934023.1:n.585-47G>T | ||
| XM_006721516.3:c.478-47G>T | XP_006721579.2:n.478-47G>T | |
| XM_011523829.2:c.478-47G>T | XP_011522131.1:n.478-47G>T | |
| XM_011523830.2:c.478-47G>T | XP_011522132.1:n.478-47G>T | |
| XM_024450741.1:c.478-47G>T | XP_024306509.1:n.478-47G>T | |
| XR_934021.2:n.537-47G>T | ||
| XR_934022.2:n.537-47G>T | ||
| XR_934023.2:n.537-47G>T | ||
| NM_000018.4:c.478-47G>T MANE Select | NP_000009.1:n.478-47G>T | |
| NM_001033859.3:c.412-47G>T | NP_001029031.1:n.412-47G>T | |
| NM_001270447.2:c.547-47G>T | NP_001257376.1:n.547-47G>T | |
| NM_001270448.2:c.250-47G>T | NP_001257377.1:n.250-47G>T |