Linked Data
ClinVar Variation Id:
6974
ClinVar RCV Id:
RCV000007389
dbSNP Id:
rs121909072
PubMed:
PMID:17632511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.42606560T>A , CM000675.2:g.42606560T>A | GRCh38 |
| NC_000013.10:g.43180696T>A , CM000675.1:g.43180696T>A | GRCh37 |
| NC_000013.9:g.42078696T>A | NCBI36 |
| NG_008990.1:g.48825T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398795.7:c.596T>A MANE Select | ENSP00000381775.3:p.Met199Lys | |
| ENST00000239849.8:c.455T>A | ENSP00000239849.7:p.Met152Lys | |
| ENST00000358545.6:c.377T>A | ENSP00000351347.2:p.Met126Lys | |
| ENST00000398795.6:c.596T>A | ENSP00000381775.3:p.Met199Lys | |
| ENST00000405262.6:c.377T>A | ENSP00000384042.2:p.Met126Lys | |
| ENST00000544862.5:c.377T>A | ENSP00000444913.1:p.Met126Lys | |
| NM_003701.3:c.596T>A | NP_003692.1:p.Met199Lys | |
| NM_033012.3:c.377T>A | NP_143026.1:p.Met126Lys | |
| XM_011535280.1:c.377T>A | XP_011533582.1:p.Met126Lys | |
| XM_011535280.2:c.377T>A | XP_011533582.1:p.Met126Lys | |
| XM_017020802.1:c.434T>A | XP_016876291.1:p.Met145Lys | |
| XM_017020803.2:c.377T>A | XP_016876292.1:p.Met126Lys | |
| NM_003701.4:c.596T>A MANE Select | NP_003692.1:p.Met199Lys | |
| NM_033012.4:c.377T>A | NP_143026.1:p.Met126Lys |