Linked Data
ClinVar Variation Id:
520219
ClinVar RCV Id:
RCV002315259
dbSNP Id:
rs146549837
gnomAD v3:
9-99146573-G-T
gnomAD v4:
9-99146573-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99146573G>T , CM000671.2:g.99146573G>T | GRCh38 |
| NC_000009.11:g.101908855G>T , CM000671.1:g.101908855G>T | GRCh37 |
| NC_000009.10:g.100948676G>T | NCBI36 |
| NG_007461.1:g.46444G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547314.6:c.1012G>T | ENSP00000449934.2:p.Val338Leu | |
| ENST00000552573.7:c.1024G>T | ENSP00000447182.3:p.Val342Leu | |
| ENST00000548365.6:c.*141G>T | ENSP00000448518.2:n.*141G>T | |
| ENST00000549021.6:c.781G>T | ENSP00000449028.2:p.Val261Leu | |
| ENST00000698941.1:c.1024G>T | ENSP00000514048.1:p.Val342Leu | |
| ENST00000698942.1:c.*1015G>T | ENSP00000514049.1:n.*1015G>T | |
| ENST00000374994.9:c.1219G>T MANE Select | ENSP00000364133.4:p.Val407Leu | |
| ENST00000374990.6:c.988G>T | ENSP00000364129.2:p.Val330Leu | |
| ENST00000374994.8:c.1219G>T | ENSP00000364133.4:p.Val407Leu | |
| ENST00000549766.5:c.1143-1081G>T | ENSP00000446685.1:n.1143-1081G>T | |
| ENST00000550253.1:c.1012G>T | ENSP00000450052.1:p.Val338Leu | |
| ENST00000552516.5:c.1231G>T | ENSP00000447297.1:p.Val411Leu | |
| NM_001130916.1:c.988G>T | NP_001124388.1:p.Val330Leu | |
| NM_001130916.2:c.988G>T | NP_001124388.1:p.Val330Leu | |
| NM_001306210.1:c.1231G>T | NP_001293139.1:p.Val411Leu | |
| NM_004612.2:c.1219G>T | NP_004603.1:p.Val407Leu | |
| NM_004612.3:c.1219G>T | NP_004603.1:p.Val407Leu | |
| XM_011518948.1:c.1024G>T | XP_011517250.1:p.Val342Leu | |
| XM_011518949.1:c.1012G>T | XP_011517251.1:p.Val338Leu | |
| XM_011518950.1:c.781G>T | XP_011517252.1:p.Val261Leu | |
| XM_011518948.2:c.1024G>T | XP_011517250.1:p.Val342Leu | |
| XM_011518949.2:c.1012G>T | XP_011517251.1:p.Val338Leu | |
| XM_011518950.2:c.781G>T | XP_011517252.1:p.Val261Leu | |
| XM_017015063.1:c.1024G>T | XP_016870552.1:p.Val342Leu | |
| XM_024447658.1:c.1012G>T | XP_024303426.1:p.Val338Leu | |
| NM_004612.4:c.1219G>T MANE Select | NP_004603.1:p.Val407Leu | |
| NM_001130916.3:c.988G>T | NP_001124388.1:p.Val330Leu | |
| NM_001306210.2:c.1231G>T | NP_001293139.1:p.Val411Leu |