Linked Data
ClinVar Variation Id:
10314
ClinVar RCV Id:
RCV000011027
dbSNP Id:
rs137852465
PubMed:
PMID:7728145
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863124C>A , CM000685.2:g.154863124C>A | GRCh38 |
| NC_000023.10:g.154091399C>A , CM000685.1:g.154091399C>A | GRCh37 |
| NC_000023.9:g.153744593C>A | NCBI36 |
| NG_011403.1:g.164600G>T | |
| NG_011403.2:g.164600G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6533G>T MANE Select | ENSP00000353393.4:p.Arg2178Leu | |
| ENST00000644698.1:c.266G>T | ENSP00000495706.1:p.Arg89Leu | |
| ENST00000330287.10:c.128G>T | ENSP00000327895.6:p.Arg43Leu | |
| ENST00000360256.8:c.6533G>T | ENSP00000353393.4:p.Arg2178Leu | |
| NM_000132.3:c.6533G>T | NP_000123.1:p.Arg2178Leu | |
| NM_019863.2:c.128G>T | NP_063916.1:p.Arg43Leu | |
| XM_011531126.1:c.6428G>T | XP_011529428.1:p.Arg2143Leu | |
| NM_000132.4:c.6533G>T MANE Select | NP_000123.1:p.Arg2178Leu | |
| NM_019863.3:c.128G>T | NP_063916.1:p.Arg43Leu |