Linked Data
ClinVar Variation Id:
9459
ClinVar RCV Id:
RCV000010067
dbSNP Id:
rs137852610
PubMed:
PMID:1968911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44901646T>G , CM000683.2:g.44901646T>G | GRCh38 |
| NC_000021.8:g.46321561T>G , CM000683.1:g.46321561T>G | GRCh37 |
| NC_000021.7:g.45145989T>G | NCBI36 |
| NG_007270.2:g.32193A>C , LRG_76:g.32193A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302347.10:c.587A>C | ENSP00000303242.6:p.Lys196Thr | |
| ENST00000652462.1:c.587A>C MANE Select | ENSP00000498780.1:p.Lys196Thr | |
| ENST00000302347.9:c.587A>C | ENSP00000303242.5:p.Lys196Thr | |
| ENST00000320216.10:c.560A>C | ENSP00000317697.6:p.Lys187Thr | |
| ENST00000355153.8:c.587A>C | ENSP00000347279.4:p.Lys196Thr | |
| ENST00000397850.6:c.587A>C | ENSP00000380948.2:p.Lys196Thr | |
| ENST00000397852.5:c.587A>C | ENSP00000380950.1:p.Lys196Thr | |
| ENST00000397854.7:c.416A>C | ENSP00000380952.3:p.Lys139Thr | |
| ENST00000397857.5:c.587A>C | ENSP00000380955.1:p.Lys196Thr | |
| ENST00000498666.5:n.730A>C | ||
| ENST00000521987.1:n.468A>C | ||
| ENST00000523323.5:c.*414A>C | ENSP00000427732.1:n.*414A>C | |
| ENST00000610622.4:c.416A>C | ENSP00000480700.1:p.Lys139Thr | |
| NM_000211.4:c.587A>C | NP_000202.3:p.Lys196Thr | |
| NM_001127491.2:c.587A>C | NP_001120963.2:p.Lys196Thr | |
| NM_001303238.1:c.380A>C | NP_001290167.1:p.Lys127Thr | |
| XM_006724001.1:c.380A>C | XP_006724064.1:p.Lys127Thr | |
| XM_006724001.2:c.380A>C | XP_006724064.1:p.Lys127Thr | |
| NM_000211.5:c.587A>C MANE Select | NP_000202.3:p.Lys196Thr | |
| NM_001127491.3:c.587A>C | NP_001120963.2:p.Lys196Thr | |
| NM_001303238.2:c.380A>C | NP_001290167.1:p.Lys127Thr |