Linked Data
ClinVar Variation Id:
10324
ClinVar RCV Id:
RCV000011037
dbSNP Id:
rs137852358
PubMed:
PMID:1840568
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154861758C>A , CM000685.2:g.154861758C>A | GRCh38 |
| NC_000023.10:g.154090033C>A , CM000685.1:g.154090033C>A | GRCh37 |
| NC_000023.9:g.153743227C>A | NCBI36 |
| NG_011403.1:g.165966G>T | |
| NG_011403.2:g.165966G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.6683G>T MANE Select | ENSP00000353393.4:p.Arg2228Leu | |
| ENST00000644698.1:c.416G>T | ENSP00000495706.1:p.Arg139Leu | |
| ENST00000330287.10:c.278G>T | ENSP00000327895.6:p.Arg93Leu | |
| ENST00000360256.8:c.6683G>T | ENSP00000353393.4:p.Arg2228Leu | |
| NM_000132.3:c.6683G>T | NP_000123.1:p.Arg2228Leu | |
| NM_019863.2:c.278G>T | NP_063916.1:p.Arg93Leu | |
| XM_011531126.1:c.6578G>T | XP_011529428.1:p.Arg2193Leu | |
| NM_000132.4:c.6683G>T MANE Select | NP_000123.1:p.Arg2228Leu | |
| NM_019863.3:c.278G>T | NP_063916.1:p.Arg93Leu |