Linked Data
ClinVar Variation Id:
1666658
ClinVar RCV Id:
RCV002184397
dbSNP Id:
rs1303680695
gnomAD v2:
6-74310085-G-A
gnomAD v3:
6-73600362-G-A
gnomAD v4:
6-73600362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600362G>A , CM000668.2:g.73600362G>A | GRCh38 |
| NC_000006.11:g.74310085G>A , CM000668.1:g.74310085G>A | GRCh37 |
| NC_000006.10:g.74366806G>A | NCBI36 |
| NG_008272.1:g.58653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1339C>T MANE Select | ENSP00000348019.5:p.Leu447= | |
| ENST00000355773.5:c.1339C>T | ENSP00000348019.5:p.Leu447= | |
| NM_012434.4:c.1339C>T | NP_036566.1:p.Leu447= | |
| XM_005248710.2:c.1288C>T | XP_005248767.1:p.Leu430= | |
| XM_005248711.1:c.1141C>T | XP_005248768.1:p.Leu381= | |
| XM_011535750.1:c.1191C>T | XP_011534052.1:p.Val397= | |
| NM_012434.5:c.1339C>T MANE Select | NP_036566.1:p.Leu447= | |
| NM_001382629.1:c.1108C>T | NP_001369558.1:p.Leu370= | |
| NM_001382630.1:c.1260-5148C>T | NP_001369559.1:n.1260-5148C>T | |
| NM_001382631.1:c.1360C>T | NP_001369560.1:p.Leu454= | |
| NM_001382632.1:c.1252C>T | NP_001369561.1:p.Leu418= | |
| NM_001382633.1:c.1339C>T | NP_001369562.1:p.Leu447= | |
| NM_001382634.1:c.1180C>T | NP_001369563.1:p.Leu394= | |
| NM_001382635.1:c.1336C>T | NP_001369564.1:p.Leu446= | |
| NM_001382636.1:c.1021C>T | NP_001369565.1:p.Leu341= |