Linked Data
ClinVar Variation Id:
886067
dbSNP Id:
rs144064082
ExAC:
15:28096570 G / T
gnomAD v2:
15-28096570-G-T
gnomAD v3:
15-27851424-G-T
gnomAD v4:
15-27851424-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851424G>T , CM000677.2:g.27851424G>T | GRCh38 |
| NC_000015.9:g.28096570G>T , CM000677.1:g.28096570G>T | GRCh37 |
| NC_000015.8:g.25770165G>T | NCBI36 |
| NG_009846.1:g.252889C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2296C>A MANE Select | ENSP00000346659.3:p.Pro766Thr | |
| ENST00000353809.9:c.2224C>A | ENSP00000261276.8:p.Pro742Thr | |
| ENST00000354638.7:c.2296C>A | ENSP00000346659.3:p.Pro766Thr | |
| NM_000275.2:c.2296C>A | NP_000266.2:p.Pro766Thr | |
| NM_001300984.1:c.2224C>A | NP_001287913.1:p.Pro742Thr | |
| XM_011521639.1:c.2362C>A | XP_011519941.1:p.Pro788Thr | |
| XM_011521640.1:c.2338C>A | XP_011519942.1:p.Pro780Thr | |
| XM_011521641.1:c.2320C>A | XP_011519943.1:p.Pro774Thr | |
| XM_011521642.1:c.2290C>A | XP_011519944.1:p.Pro764Thr | |
| XM_011521643.1:c.2248C>A | XP_011519945.1:p.Pro750Thr | |
| XM_011521644.1:c.2224C>A | XP_011519946.1:p.Pro742Thr | |
| XM_011521645.1:c.2155C>A | XP_011519947.1:p.Pro719Thr | |
| XM_011521640.2:c.2338C>A | XP_011519942.1:p.Pro780Thr | |
| XM_017022255.1:c.2362C>A | XP_016877744.1:p.Pro788Thr | |
| XM_017022256.1:c.2320C>A | XP_016877745.1:p.Pro774Thr | |
| XM_017022257.1:c.2290C>A | XP_016877746.1:p.Pro764Thr | |
| XM_017022258.1:c.2320C>A | XP_016877747.1:p.Pro774Thr | |
| XM_017022259.1:c.2248C>A | XP_016877748.1:p.Pro750Thr | |
| XM_017022260.1:c.2224C>A | XP_016877749.1:p.Pro742Thr | |
| XM_017022261.1:c.2167C>A | XP_016877750.1:p.Pro723Thr | |
| XM_017022262.1:c.2268+19730C>A | XP_016877751.1:n.2268+19730C>A | |
| XM_017022263.1:c.2155C>A | XP_016877752.1:p.Pro719Thr | |
| XM_017022264.1:c.2155C>A | XP_016877753.1:p.Pro719Thr | |
| NM_000275.3:c.2296C>A MANE Select | NP_000266.2:p.Pro766Thr | |
| NM_001300984.2:c.2224C>A | NP_001287913.1:p.Pro742Thr |