Linked Data
ClinVar Variation Id:
1972538
ClinVar RCV Id:
RCV002746277
dbSNP Id:
rs907235609
gnomAD v3:
6-131877114-T-C
gnomAD v4:
6-131877114-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131877114T>C , CM000668.2:g.131877114T>C | GRCh38 |
| NC_000006.11:g.132198254T>C , CM000668.1:g.132198254T>C | GRCh37 |
| NC_000006.10:g.132239947T>C | NCBI36 |
| NG_008206.1:g.74099T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683687.1:n.718T>C | ||
| ENST00000684536.1:n.344T>C | ||
| ENST00000647893.1:c.1846T>C MANE Select | ENSP00000498074.1:p.Phe616Leu | |
| ENST00000647981.1:n.531T>C | ||
| ENST00000650437.1:c.1337T>C | ||
| ENST00000360971.6:c.1846T>C | ENSP00000354238.2:p.Phe616Leu | |
| ENST00000459624.1:n.890T>C | ||
| ENST00000513998.5:c.*683T>C | ENSP00000422424.1:n.*683T>C | |
| NM_006208.2:c.1846T>C | NP_006199.2:p.Phe616Leu | |
| XM_011535896.1:c.736T>C | XP_011534198.1:p.Phe246Leu | |
| NM_006208.3:c.1846T>C MANE Select | NP_006199.2:p.Phe616Leu |