Linked Data
ClinVar Variation Id:
204133
ClinVar RCV Id:
RCV000186339
dbSNP Id:
rs180177287
gnomAD v4:
2-240877541-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877541T>C , CM000664.2:g.240877541T>C | GRCh38 |
| NC_000002.11:g.241816958T>C , CM000664.1:g.241816958T>C | GRCh37 |
| NC_000002.10:g.241465631T>C | NCBI36 |
| NG_008005.1:g.13797T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.851T>C MANE Select | ENSP00000302620.3:p.Leu284Pro | |
| ENST00000307503.3:c.851T>C | ENSP00000302620.3:p.Leu284Pro | |
| ENST00000470255.1:n.629T>C | ||
| NM_000030.2:c.851T>C | NP_000021.1:p.Leu284Pro | |
| NM_000030.3:c.851T>C MANE Select | NP_000021.1:p.Leu284Pro |