Linked Data
ClinVar Variation Id:
10109
ClinVar RCV Id:
RCV000010821
dbSNP Id:
rs137852360
PubMed:
PMID:2495245
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837676C>A , CM000685.2:g.154837676C>A | GRCh38 |
| NC_000023.10:g.154065951C>A , CM000685.1:g.154065951C>A | GRCh37 |
| NC_000023.9:g.153719145C>A | NCBI36 |
| NG_011403.1:g.190048G>T | |
| NG_033065.1:g.1987G>T | |
| NG_011403.2:g.190048G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360256.9:c.6977G>T MANE Select | ENSP00000353393.4:p.Arg2326Leu | |
| ENST00000644698.1:c.710G>T | ENSP00000495706.1:p.Arg237Leu | |
| ENST00000330287.10:c.572G>T | ENSP00000327895.6:p.Arg191Leu | |
| ENST00000360256.8:c.6977G>T | ENSP00000353393.4:p.Arg2326Leu | |
| NM_000132.3:c.6977G>T | NP_000123.1:p.Arg2326Leu | |
| NM_019863.2:c.572G>T | NP_063916.1:p.Arg191Leu | |
| XM_011531126.1:c.6872G>T | XP_011529428.1:p.Arg2291Leu | |
| NM_000132.4:c.6977G>T MANE Select | NP_000123.1:p.Arg2326Leu | |
| NM_019863.3:c.572G>T | NP_063916.1:p.Arg191Leu |