Linked Data
ClinVar Variation Id:
6012
ClinVar RCV Id:
RCV000006383
dbSNP Id:
rs28939716
PubMed:
PMID:15024693
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41747357G>C , CM000666.2:g.41747357G>C | GRCh38 |
| NC_000004.11:g.41749374G>C , CM000666.1:g.41749374G>C | GRCh37 |
| NC_000004.10:g.41444131G>C | NCBI36 |
| NG_008243.1:g.6614C>G , LRG_513:g.6614C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.421C>G MANE Select | ENSP00000226382.2:p.Arg141Gly | |
| ENST00000226382.3:c.421C>G | ENSP00000226382.2:p.Arg141Gly | |
| ENST00000510424.2:n.242C>G | ||
| NM_003924.3:c.421C>G , LRG_513t1:c.421C>G | NP_003915.2:p.Arg141Gly | |
| NM_003924.4:c.421C>G MANE Select | NP_003915.2:p.Arg141Gly |