Linked Data
dbSNP Id:
rs775797560
ExAC:
17:7127501 C / T
gnomAD v2:
17-7127501-C-T
gnomAD v4:
17-7224182-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224182C>T , CM000679.2:g.7224182C>T | GRCh38 |
| NC_000017.10:g.7127501C>T , CM000679.1:g.7127501C>T | GRCh37 |
| NC_000017.9:g.7068225C>T | NCBI36 |
| NG_007975.1:g.9349C>T | |
| NG_008391.2:g.869G>A | |
| NG_033038.1:g.15363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1471C>T MANE Select | ENSP00000349297.5:p.Leu491= | |
| ENST00000322910.9:c.*1426C>T | ENSP00000325395.5:n.*1426C>T | |
| ENST00000350303.9:c.1405C>T | ENSP00000344152.5:p.Leu469= | |
| ENST00000356839.9:c.1471C>T | ENSP00000349297.5:p.Leu491= | |
| ENST00000542255.6:c.329C>T | ||
| ENST00000543245.6:c.1540C>T | ENSP00000438689.2:p.Leu514= | |
| ENST00000578711.1:n.678C>T | ||
| ENST00000579391.1:n.79C>T | ||
| ENST00000579425.5:n.587C>T | ||
| ENST00000579546.1:c.271+113C>T | ||
| ENST00000579894.5:n.258C>T | ||
| ENST00000583074.5:n.153+113C>T | ||
| ENST00000583850.5:n.246C>T | ||
| ENST00000583858.5:c.463+113C>T | ||
| ENST00000585203.6:n.662C>T | ||
| NM_000018.3:c.1471C>T | NP_000009.1:p.Leu491= | |
| NM_001033859.2:c.1405C>T | NP_001029031.1:p.Leu469= | |
| NM_001270447.1:c.1540C>T | NP_001257376.1:p.Leu514= | |
| NM_001270448.1:c.1243C>T | NP_001257377.1:p.Leu415= | |
| XM_006721516.2:c.1471C>T | XP_006721579.2:p.Leu491= | |
| XM_011523829.1:c.1434+113C>T | XP_011522131.1:n.1434+113C>T | |
| XM_011523830.1:c.1434+113C>T | XP_011522132.1:n.1434+113C>T | |
| XR_934021.1:n.1578C>T | ||
| XR_934022.1:n.1541+113C>T | ||
| XR_934023.1:n.1541+113C>T | ||
| XM_006721516.3:c.1471C>T | XP_006721579.2:p.Leu491= | |
| XM_011523829.2:c.1434+113C>T | XP_011522131.1:n.1434+113C>T | |
| XM_011523830.2:c.1434+113C>T | XP_011522132.1:n.1434+113C>T | |
| XM_024450741.1:c.1434+113C>T | XP_024306509.1:n.1434+113C>T | |
| XR_934021.2:n.1530C>T | ||
| XR_934022.2:n.1493+113C>T | ||
| XR_934023.2:n.1493+113C>T | ||
| NM_000018.4:c.1471C>T MANE Select | NP_000009.1:p.Leu491= | |
| NM_001033859.3:c.1405C>T | NP_001029031.1:p.Leu469= | |
| NM_001270447.2:c.1540C>T | NP_001257376.1:p.Leu514= | |
| NM_001270448.2:c.1243C>T | NP_001257377.1:p.Leu415= |