Linked Data
ClinVar Variation Id:
215919
ClinVar RCV Id:
RCV000196476
RCV000267534
RCV000298886
RCV000357689
RCV000302858
RCV000390430
RCV000438539
RCV001173498
RCV001079469
RCV002426944
RCV004553086
dbSNP Id:
rs148171058
ExAC:
12:110224603 C / T
gnomAD v2:
12-110224603-C-T
gnomAD v3:
12-109786798-C-T
gnomAD v4:
12-109786798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109786798C>T , CM000674.2:g.109786798C>T | GRCh38 |
| NC_000012.11:g.110224603C>T , CM000674.1:g.110224603C>T | GRCh37 |
| NC_000012.10:g.108708986C>T | NCBI36 |
| NG_017090.1:g.51610G>A , LRG_372:g.51610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261740.7:c.2248G>A MANE Select | ENSP00000261740.2:p.Val750Ile | |
| ENST00000418703.7:c.2248G>A | ENSP00000406191.2:p.Val750Ile | |
| ENST00000674908.1:c.*1335G>A | ENSP00000502012.1:n.*1335G>A | |
| ENST00000675670.1:c.2248G>A | ENSP00000502135.1:p.Val750Ile | |
| ENST00000261740.6:c.2248G>A | ENSP00000261740.2:p.Val750Ile | |
| ENST00000418703.6:c.2248G>A | ENSP00000406191.2:p.Val750Ile | |
| ENST00000536838.1:c.2146G>A | ENSP00000444336.1:p.Val716Ile | |
| ENST00000537083.5:c.2068G>A | ENSP00000442738.1:p.Val690Ile | |
| ENST00000538125.5:c.*631G>A | ENSP00000437449.1:n.*631G>A | |
| ENST00000541794.5:c.2107G>A | ENSP00000442167.1:p.Val703Ile | |
| ENST00000544971.5:c.1927G>A | ENSP00000443611.1:p.Val643Ile | |
| NM_001177428.1:c.2107G>A | NP_001170899.1:p.Val703Ile | |
| NM_001177431.1:c.2146G>A | NP_001170902.1:p.Val716Ile | |
| NM_001177433.1:c.1927G>A | NP_001170904.1:p.Val643Ile | |
| NM_021625.4:c.2248G>A , LRG_372t1:c.2248G>A | NP_067638.3:p.Val750Ile | |
| NM_147204.2:c.2068G>A | NP_671737.1:p.Val690Ile | |
| XM_005253918.1:c.2248G>A | XP_005253975.1:p.Val750Ile | |
| XM_011538630.1:c.2248G>A | XP_011536932.1:p.Val750Ile | |
| XM_011538631.1:c.2107G>A | XP_011536933.1:p.Val703Ile | |
| XM_011538632.1:c.2068G>A | XP_011536934.1:p.Val690Ile | |
| XM_011538633.1:c.1927G>A | XP_011536935.1:p.Val643Ile | |
| XM_011538630.2:c.2401G>A | XP_011536932.2:p.Val801Ile | |
| XM_011538631.2:c.2260G>A | XP_011536933.2:p.Val754Ile | |
| XM_011538632.2:c.2221G>A | XP_011536934.2:p.Val741Ile | |
| XM_011538633.2:c.2080G>A | XP_011536935.2:p.Val694Ile | |
| XM_017019774.1:c.2248G>A | XP_016875263.1:p.Val750Ile | |
| NM_021625.5:c.2248G>A MANE Select | NP_067638.3:p.Val750Ile |