Linked Data
ClinVar Variation Id:
794341
ClinVar RCV Id:
RCV001394548
dbSNP Id:
rs1583656714
gnomAD v4:
7-21749693-T-C
MyVariant Identifiers:
chr7:g.21789311T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21749693T>C , CM000669.2:g.21749693T>C | GRCh38 |
| NC_000007.13:g.21789311T>C , CM000669.1:g.21789311T>C | GRCh37 |
| NC_000007.12:g.21755836T>C | NCBI36 |
| NG_012886.2:g.211479T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.8689T>C MANE Select | ENSP00000475939.1:p.Leu2897= | |
| ENST00000328843.10:c.8710T>C | ENSP00000330671.7:p.Leu2904= | |
| ENST00000409508.7:c.8689T>C | ENSP00000475939.1:p.Leu2897= | |
| ENST00000620169.4:c.8710T>C | ENSP00000481693.1:p.Leu2904= | |
| NM_001277115.1:c.8689T>C | NP_001264044.1:p.Leu2897= | |
| NM_001277115.2:c.8689T>C MANE Select | NP_001264044.1:p.Leu2897= |