Linked Data
dbSNP Id:
rs761358426
ExAC:
17:7127615 C / T
gnomAD v2:
17-7127615-C-T
gnomAD v4:
17-7224296-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224296C>T , CM000679.2:g.7224296C>T | GRCh38 |
| NC_000017.10:g.7127615C>T , CM000679.1:g.7127615C>T | GRCh37 |
| NC_000017.9:g.7068339C>T | NCBI36 |
| NG_007975.1:g.9463C>T | |
| NG_008391.2:g.755G>A | |
| NG_033038.1:g.15249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1533-25C>T MANE Select | ENSP00000349297.5:n.1533-25C>T | |
| ENST00000322910.9:c.*1488-25C>T | ENSP00000325395.5:n.*1488-25C>T | |
| ENST00000350303.9:c.1467-25C>T | ENSP00000344152.5:n.1467-25C>T | |
| ENST00000356839.9:c.1533-25C>T | ENSP00000349297.5:n.1533-25C>T | |
| ENST00000542255.6:c.391-25C>T | ||
| ENST00000543245.6:c.1602-25C>T | ENSP00000438689.2:n.1602-25C>T | |
| ENST00000578319.5:n.28-25C>T | ||
| ENST00000578711.1:n.792C>T | ||
| ENST00000578809.5:n.80C>T | ||
| ENST00000579391.1:n.141-25C>T | ||
| ENST00000579425.5:n.649-25C>T | ||
| ENST00000579546.1:c.272-25C>T | ||
| ENST00000579894.5:n.320-25C>T | ||
| ENST00000582450.1:n.16C>T | ||
| ENST00000583074.5:n.154-25C>T | ||
| ENST00000583850.5:n.308-25C>T | ||
| ENST00000583858.5:c.464-25C>T | ||
| ENST00000585203.6:n.724-25C>T | ||
| NM_000018.3:c.1533-25C>T | NP_000009.1:n.1533-25C>T | |
| NM_001033859.2:c.1467-25C>T | NP_001029031.1:n.1467-25C>T | |
| NM_001270447.1:c.1602-25C>T | NP_001257376.1:n.1602-25C>T | |
| NM_001270448.1:c.1305-25C>T | NP_001257377.1:n.1305-25C>T | |
| XM_006721516.2:c.1533-25C>T | XP_006721579.2:n.1533-25C>T | |
| XM_011523829.1:c.1435-25C>T | XP_011522131.1:n.1435-25C>T | |
| XM_011523830.1:c.1435-25C>T | XP_011522132.1:n.1435-25C>T | |
| XR_934021.1:n.1640-25C>T | ||
| XR_934022.1:n.1542-25C>T | ||
| XR_934023.1:n.1542-25C>T | ||
| XM_006721516.3:c.1533-25C>T | XP_006721579.2:n.1533-25C>T | |
| XM_011523829.2:c.1435-25C>T | XP_011522131.1:n.1435-25C>T | |
| XM_011523830.2:c.1435-25C>T | XP_011522132.1:n.1435-25C>T | |
| XM_024450741.1:c.1435-25C>T | XP_024306509.1:n.1435-25C>T | |
| XR_934021.2:n.1592-25C>T | ||
| XR_934022.2:n.1494-25C>T | ||
| XR_934023.2:n.1494-25C>T | ||
| NM_000018.4:c.1533-25C>T MANE Select | NP_000009.1:n.1533-25C>T | |
| NM_001033859.3:c.1467-25C>T | NP_001029031.1:n.1467-25C>T | |
| NM_001270447.2:c.1602-25C>T | NP_001257376.1:n.1602-25C>T | |
| NM_001270448.2:c.1305-25C>T | NP_001257377.1:n.1305-25C>T |