Linked Data
ClinVar Variation Id:
4074
ClinVar RCV Id:
RCV000004289
dbSNP Id:
rs137852951
PubMed:
PMID:18830233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.165995090A>C , CM000666.2:g.165995090A>C | GRCh38 |
| NC_000004.11:g.166916242A>C , CM000666.1:g.166916242A>C | GRCh37 |
| NC_000004.10:g.167135692A>C | NCBI36 |
| NG_016278.1:g.126833A>C | |
| NG_016278.2:g.126833A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000061240.7:c.544A>C MANE Select | ENSP00000061240.2:p.Met182Leu | |
| ENST00000061240.6:c.544A>C | ENSP00000061240.2:p.Met182Leu | |
| ENST00000506144.1:c.244A>C | ENSP00000423748.1:p.Met82Leu | |
| ENST00000507499.5:c.544A>C | ENSP00000426082.1:p.Met182Leu | |
| ENST00000509505.5:c.*189A>C | ENSP00000422692.1:n.*189A>C | |
| ENST00000513213.5:c.544A>C | ENSP00000422937.1:p.Met182Leu | |
| NM_001204760.1:c.544A>C | NP_001191689.1:p.Met182Leu | |
| NM_012464.4:c.544A>C | NP_036596.3:p.Met182Leu | |
| XM_011532212.1:c.544A>C | XP_011530514.1:p.Met182Leu | |
| XM_011532213.1:c.397A>C | XP_011530515.1:p.Met133Leu | |
| XM_011532214.1:c.16A>C | XP_011530516.1:p.Met6Leu | |
| XM_017008570.1:c.397A>C | XP_016864059.1:p.Met133Leu | |
| XM_024454194.1:c.244A>C | XP_024309962.1:p.Met82Leu | |
| XM_024454195.1:c.244A>C | XP_024309963.1:p.Met82Leu | |
| NM_012464.5:c.544A>C MANE Select | NP_036596.3:p.Met182Leu | |
| NM_001204760.2:c.544A>C | NP_001191689.1:p.Met182Leu |