Linked Data
ClinVar Variation Id:
797209
ClinVar RCV Id:
RCV001425744
dbSNP Id:
rs374241516
gnomAD v2:
6-74310152-G-A
gnomAD v4:
6-73600429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73600429G>A , CM000668.2:g.73600429G>A | GRCh38 |
| NC_000006.11:g.74310152G>A , CM000668.1:g.74310152G>A | GRCh37 |
| NC_000006.10:g.74366873G>A | NCBI36 |
| NG_008272.1:g.58586C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.1272C>T MANE Select | ENSP00000348019.5:p.Ile424= | |
| ENST00000355773.5:c.1272C>T | ENSP00000348019.5:p.Ile424= | |
| NM_012434.4:c.1272C>T | NP_036566.1:p.Ile424= | |
| XM_005248710.2:c.1221C>T | XP_005248767.1:p.Ile407= | |
| XM_005248711.1:c.1074C>T | XP_005248768.1:p.Ile358= | |
| XM_011535750.1:c.1124C>T | XP_011534052.1:p.Ser375Phe | |
| NM_012434.5:c.1272C>T MANE Select | NP_036566.1:p.Ile424= | |
| NM_001382629.1:c.1041C>T | NP_001369558.1:p.Ile347= | |
| NM_001382630.1:c.1260-5215C>T | NP_001369559.1:n.1260-5215C>T | |
| NM_001382631.1:c.1293C>T | NP_001369560.1:p.Ile431= | |
| NM_001382632.1:c.1185C>T | NP_001369561.1:p.Ile395= | |
| NM_001382633.1:c.1272C>T | NP_001369562.1:p.Ile424= | |
| NM_001382634.1:c.1113C>T | NP_001369563.1:p.Ile371= | |
| NM_001382635.1:c.1269C>T | NP_001369564.1:p.Ile423= | |
| NM_001382636.1:c.954C>T | NP_001369565.1:p.Ile318= |