Linked Data
ClinVar Variation Id:
100188
dbSNP Id:
rs150146744
ExAC:
12:6167016 C / A
gnomAD v2:
12-6167016-C-A
gnomAD v3:
12-6057850-C-A
gnomAD v4:
12-6057850-C-A
ERepo:
CA228284/MONDO:0019565/090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6057850C>A , CM000674.2:g.6057850C>A | GRCh38 |
| NC_000012.11:g.6167016C>A , CM000674.1:g.6167016C>A | GRCh37 |
| NC_000012.10:g.6037277C>A | NCBI36 |
| NG_009072.1:g.71821G>T | |
| NG_009072.2:g.71821G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1728G>T MANE Select | ENSP00000261405.5:p.Met576Ile | |
| ENST00000261405.9:c.1728G>T | ENSP00000261405.5:p.Met576Ile | |
| ENST00000538635.5:n.420+52665G>T | ||
| NM_000552.3:c.1728G>T | NP_000543.2:p.Met576Ile | |
| NM_000552.4:c.1728G>T | NP_000543.2:p.Met576Ile | |
| NM_000552.5:c.1728G>T MANE Select | NP_000543.3:p.Met576Ile |