Linked Data
ClinVar Variation Id:
10325
ClinVar RCV Id:
RCV000011038
dbSNP Id:
rs137852355
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154861759G>C , CM000685.2:g.154861759G>C | GRCh38 |
| NC_000023.10:g.154090034G>C , CM000685.1:g.154090034G>C | GRCh37 |
| NC_000023.9:g.153743228G>C | NCBI36 |
| NG_011403.1:g.165965C>G | |
| NG_011403.2:g.165965C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6682C>G MANE Select | ENSP00000353393.4:p.Arg2228Gly | |
| ENST00000644698.1:c.415C>G | ENSP00000495706.1:p.Arg139Gly | |
| ENST00000330287.10:c.277C>G | ENSP00000327895.6:p.Arg93Gly | |
| ENST00000360256.8:c.6682C>G | ENSP00000353393.4:p.Arg2228Gly | |
| NM_000132.3:c.6682C>G | NP_000123.1:p.Arg2228Gly | |
| NM_019863.2:c.277C>G | NP_063916.1:p.Arg93Gly | |
| XM_011531126.1:c.6577C>G | XP_011529428.1:p.Arg2193Gly | |
| NM_000132.4:c.6682C>G MANE Select | NP_000123.1:p.Arg2228Gly | |
| NM_019863.3:c.277C>G | NP_063916.1:p.Arg93Gly |