Linked Data
dbSNP Id:
rs1395205447
gnomAD v2:
16-50763788-G-A
gnomAD v4:
16-50729877-G-A
COSMIC:
COSM4396658
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50729877G>A , CM000678.2:g.50729877G>A | GRCh38 |
| NC_000016.9:g.50763788G>A , CM000678.1:g.50763788G>A | GRCh37 |
| NC_000016.8:g.49321289G>A | NCBI36 |
| NG_007508.1:g.37739G>A , LRG_177:g.37739G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000641284.2:c.*59G>A | ENSP00000493088.1:n.*59G>A | |
| ENST00000646677.2:c.*710G>A | ENSP00000496533.1:n.*710G>A | |
| ENST00000697428.1:n.2423G>A | ||
| ENST00000641284.1:c.*59G>A | ENSP00000493088.1:n.*59G>A | |
| ENST00000646677.1:c.*710G>A | ENSP00000496533.1:n.*710G>A | |
| ENST00000647318.2:c.2945G>A MANE Select | ENSP00000495993.1:p.Arg982Lys | |
| ENST00000300589.6:c.3026G>A | ENSP00000300589.2:p.Arg1009Lys | |
| NM_001293557.1:c.2945G>A | NP_001280486.1:p.Arg982Lys | |
| NM_022162.2:c.3026G>A | NP_071445.1:p.Arg1009Lys | |
| XM_005256084.2:c.2945G>A | XP_005256141.1:p.Arg982Lys | |
| XM_006721242.2:c.2861G>A | XP_006721305.1:p.Arg954Lys | |
| XM_011523257.1:c.2522G>A | XP_011521559.1:p.Arg841Lys | |
| XM_011523258.1:c.2522G>A | XP_011521560.1:p.Arg841Lys | |
| XM_011523259.1:c.2360G>A | XP_011521561.1:p.Arg787Lys | |
| XM_005256084.4:c.2945G>A | XP_005256141.1:p.Arg982Lys | |
| XM_006721242.4:c.2861G>A | XP_006721305.1:p.Arg954Lys | |
| XM_011523259.2:c.2360G>A | XP_011521561.1:p.Arg787Lys | |
| XM_017023535.1:c.2453G>A | XP_016879024.1:p.Arg818Lys | |
| XM_017023536.1:c.2360G>A | XP_016879025.1:p.Arg787Lys | |
| XM_017023537.1:c.2360G>A | XP_016879026.1:p.Arg787Lys | |
| XM_017023538.1:c.2360G>A | XP_016879027.1:p.Arg787Lys | |
| NM_001293557.2:c.2945G>A | NP_001280486.1:p.Arg982Lys | |
| NM_001370466.1:c.2945G>A MANE Select | NP_001357395.1:p.Arg982Lys | |
| NM_022162.3:c.3026G>A | NP_071445.1:p.Arg1009Lys | |
| NR_163434.1:n.3157G>A |