Linked Data
ClinVar Variation Id:
525451
dbSNP Id:
rs11793196
ExAC:
9:34500821 G / T
gnomAD v2:
9-34500821-G-T
gnomAD v4:
9-34500823-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34500823G>T , CM000671.2:g.34500823G>T | GRCh38 |
| NC_000009.11:g.34500821G>T , CM000671.1:g.34500821G>T | GRCh37 |
| NC_000009.10:g.34490821G>T | NCBI36 |
| NG_008127.1:g.47011G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1003G>T MANE Select | ENSP00000242317.4:p.Val335Phe | |
| ENST00000242317.8:c.1003G>T | ENSP00000242317.4:p.Val335Phe | |
| ENST00000614641.4:c.1015G>T | ENSP00000480538.1:p.Val339Phe | |
| NM_001281428.1:c.1015G>T | NP_001268357.1:p.Val339Phe | |
| NM_012144.3:c.1003G>T | NP_036276.1:p.Val335Phe | |
| XM_006716758.2:c.472G>T | XP_006716821.1:p.Val158Phe | |
| XM_011517846.1:c.1015G>T | XP_011516148.1:p.Val339Phe | |
| XM_011517847.1:c.1015G>T | XP_011516149.1:p.Val339Phe | |
| XM_011517848.1:c.1015G>T | XP_011516150.1:p.Val339Phe | |
| XM_011517849.1:c.1015G>T | XP_011516151.1:p.Val339Phe | |
| XM_011517850.1:c.1015G>T | XP_011516152.1:p.Val339Phe | |
| XR_929232.1:n.1269G>T | ||
| XR_929233.1:n.1269G>T | ||
| XR_929235.1:n.1269G>T | ||
| XM_006716758.3:c.472G>T | XP_006716821.1:p.Val158Phe | |
| XM_011517846.2:c.1015G>T | XP_011516148.1:p.Val339Phe | |
| XM_011517847.3:c.1015G>T | XP_011516149.1:p.Val339Phe | |
| XM_011517848.2:c.1015G>T | XP_011516150.1:p.Val339Phe | |
| XM_011517849.2:c.1015G>T | XP_011516151.1:p.Val339Phe | |
| XM_011517850.3:c.1015G>T | XP_011516152.1:p.Val339Phe | |
| XM_017014625.2:c.1003G>T | XP_016870114.1:p.Val335Phe | |
| XR_002956774.1:n.1216G>T | ||
| XR_929232.2:n.1216G>T | ||
| XR_929233.2:n.1216G>T | ||
| NM_012144.4:c.1003G>T MANE Select | NP_036276.1:p.Val335Phe | |
| NM_001281428.2:c.1015G>T | NP_001268357.1:p.Val339Phe |