Linked Data
ClinVar Variation Id:
1505354
dbSNP Id:
rs144824627
ExAC:
9:138657605 A / C
gnomAD v2:
9-138657605-A-C
gnomAD v3:
9-135765759-A-C
gnomAD v4:
9-135765759-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135765759A>C , CM000671.2:g.135765759A>C | GRCh38 |
| NC_000009.11:g.138657605A>C , CM000671.1:g.138657605A>C | GRCh37 |
| NC_000009.10:g.137797426A>C | NCBI36 |
| NG_033070.1:g.68575A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1336A>C MANE Select | ENSP00000360822.2:p.Lys446Gln | |
| ENST00000636003.1:c.26A>C | ||
| ENST00000636995.1:n.63A>C | ||
| ENST00000637798.1:n.75A>C | ||
| ENST00000674572.1:c.1177A>C | ENSP00000501742.1:p.Lys393Gln | |
| ENST00000675090.1:c.1084A>C | ENSP00000501833.1:p.Lys362Gln | |
| ENST00000675399.1:c.1084A>C | ENSP00000501932.1:p.Lys362Gln | |
| ENST00000676421.1:c.1093A>C | ENSP00000502322.1:p.Lys365Gln | |
| ENST00000263604.5:c.1237A>C | ENSP00000263604.4:p.Lys413Gln | |
| ENST00000371757.6:c.1336A>C | ENSP00000360822.2:p.Lys446Gln | |
| ENST00000460750.5:c.*946A>C | ENSP00000418777.1:n.*946A>C | |
| ENST00000486577.6:c.1219A>C | ENSP00000417578.3:p.Lys407Gln | |
| ENST00000487664.5:c.1336A>C | ENSP00000417851.2:p.Lys446Gln | |
| ENST00000488444.6:c.1279A>C | ENSP00000419007.3:p.Lys427Gln | |
| ENST00000490355.6:c.1279A>C | ENSP00000418003.3:p.Lys427Gln | |
| ENST00000490363.3:n.1155A>C | ||
| ENST00000491806.6:c.1279A>C | ENSP00000419086.3:p.Lys427Gln | |
| ENST00000628528.2:c.1201A>C | ENSP00000486374.1:p.Lys401Gln | |
| ENST00000630792.2:c.1177A>C | ENSP00000486486.1:p.Lys393Gln | |
| ENST00000631073.2:c.1279A>C | ENSP00000486130.1:p.Lys427Gln | |
| NM_001272003.1:c.1201A>C | NP_001258932.1:p.Lys401Gln | |
| NM_020822.2:c.1336A>C | NP_065873.2:p.Lys446Gln | |
| XM_011518877.1:c.1471A>C | XP_011517179.1:p.Lys491Gln | |
| XM_011518878.1:c.1480A>C | XP_011517180.1:p.Lys494Gln | |
| XM_011518879.1:c.1471A>C | XP_011517181.1:p.Lys491Gln | |
| XM_011518880.1:c.1237A>C | XP_011517182.1:p.Lys413Gln | |
| XM_011518881.1:c.826A>C | XP_011517183.1:p.Lys276Gln | |
| XM_011518877.3:c.1471A>C | XP_011517179.1:p.Lys491Gln | |
| XM_011518878.3:c.1480A>C | XP_011517180.1:p.Lys494Gln | |
| XM_011518879.3:c.1471A>C | XP_011517181.1:p.Lys491Gln | |
| XM_011518881.3:c.826A>C | XP_011517183.1:p.Lys276Gln | |
| XM_017014931.1:c.1270A>C | XP_016870420.1:p.Lys424Gln | |
| XM_017014932.1:c.1093A>C | XP_016870421.1:p.Lys365Gln | |
| XM_017014933.1:c.826A>C | XP_016870422.1:p.Lys276Gln | |
| XM_024447617.1:c.826A>C | XP_024303385.1:p.Lys276Gln | |
| XM_024447618.1:c.826A>C | XP_024303386.1:p.Lys276Gln | |
| NM_020822.3:c.1336A>C MANE Select | NP_065873.2:p.Lys446Gln | |
| NM_001272003.2:c.1201A>C | NP_001258932.1:p.Lys401Gln |