Linked Data
ClinVar Variation Id:
1298858
dbSNP Id:
rs1691804529
gnomAD v3:
2-232534083-G-C
gnomAD v4:
2-232534083-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232534083G>C , CM000664.2:g.232534083G>C | GRCh38 |
| NC_000002.11:g.233398793G>C , CM000664.1:g.233398793G>C | GRCh37 |
| NC_000002.10:g.233107037G>C | NCBI36 |
| NG_008028.1:g.12872G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258385.8:c.1200G>C MANE Select | ENSP00000258385.3:p.Met400Ile | |
| ENST00000258385.7:c.1200G>C | ENSP00000258385.3:p.Met400Ile | |
| ENST00000441621.6:c.*382G>C | ENSP00000408819.2:n.*382G>C | |
| ENST00000446616.1:c.*841G>C | ENSP00000410801.1:n.*841G>C | |
| ENST00000543200.5:c.1155G>C | ENSP00000438380.1:p.Met385Ile | |
| NM_000751.2:c.1200G>C | NP_000742.1:p.Met400Ile | |
| NM_001256657.1:c.1155G>C | NP_001243586.1:p.Met385Ile | |
| NM_001311195.1:c.618G>C | NP_001298124.1:p.Met206Ile | |
| NM_001311196.1:c.897G>C | NP_001298125.1:p.Met299Ile | |
| NR_046333.1:c.-4294966351G>C | ||
| NR_046334.1:c.-4294966072G>C | ||
| XM_011510524.1:c.819G>C | XP_011508826.1:p.Met273Ile | |
| XM_011510524.2:c.819G>C | XP_011508826.1:p.Met273Ile | |
| NM_000751.3:c.1200G>C MANE Select | NP_000742.1:p.Met400Ile | |
| NM_001311195.2:c.618G>C | NP_001298124.1:p.Met206Ile | |
| NM_001311196.2:c.897G>C | NP_001298125.1:p.Met299Ile | |
| NM_001256657.2:c.1155G>C | NP_001243586.1:p.Met385Ile |