Linked Data
ClinVar Variation Id:
261503
dbSNP Id:
rs6505592
ExAC:
18:10787047 G / A
gnomAD v2:
18-10787047-G-A
gnomAD v3:
18-10787049-G-A
gnomAD v4:
18-10787049-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.10787049G>A , CM000680.2:g.10787049G>A | GRCh38 |
| NC_000018.9:g.10787047G>A , CM000680.1:g.10787047G>A | GRCh37 |
| NC_000018.8:g.10777047G>A | NCBI36 |
| NG_034005.1:g.366714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000383408.7:c.2305C>T | ENSP00000372900.4:p.Leu769= | |
| ENST00000686869.1:n.2362C>T | ||
| ENST00000674853.1:c.2305C>T MANE Select | ENSP00000501957.1:p.Leu769= | |
| ENST00000302079.10:c.2305C>T | ENSP00000303316.6:p.Leu769= | |
| ENST00000383408.6:c.2152C>T | ENSP00000372900.3:p.Leu718= | |
| ENST00000503781.7:c.2305C>T | ENSP00000421377.3:p.Leu769= | |
| ENST00000580640.5:c.2305C>T | ENSP00000463094.1:p.Leu769= | |
| ENST00000582913.5:c.2305C>T | ENSP00000462115.1:p.Leu769= | |
| ENST00000583325.1:c.292C>T | ENSP00000462560.1:p.Leu98= | |
| NM_022068.3:c.2305C>T | NP_071351.2:p.Leu769= | |
| XM_011525723.1:c.2305C>T | XP_011524025.1:p.Leu769= | |
| XM_011525724.1:c.2305C>T | XP_011524026.1:p.Leu769= | |
| XM_011525725.1:c.2305C>T | XP_011524027.1:p.Leu769= | |
| XM_011525726.1:c.2305C>T | XP_011524028.1:p.Leu769= | |
| XM_011525727.1:c.2305C>T | XP_011524029.1:p.Leu769= | |
| XM_011525723.3:c.2305C>T | XP_011524025.1:p.Leu769= | |
| XM_011525724.3:c.2305C>T | XP_011524026.1:p.Leu769= | |
| XM_011525725.3:c.2305C>T | XP_011524027.1:p.Leu769= | |
| XM_011525726.3:c.2305C>T | XP_011524028.1:p.Leu769= | |
| XM_017025918.2:c.2266C>T | XP_016881407.1:p.Leu756= | |
| XR_001753259.2:n.3302C>T | ||
| NM_001378183.1:c.2305C>T MANE Select | NP_001365112.1:p.Leu769= | |
| NM_022068.4:c.2305C>T | NP_071351.2:p.Leu769= |