Linked Data
ClinVar Variation Id:
2962
ClinVar RCV Id:
RCV000003096
dbSNP Id:
rs120074130
PubMed:
PMID:10480349
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23539941C>T , CM000680.2:g.23539941C>T | GRCh38 |
| NC_000018.9:g.21119905C>T , CM000680.1:g.21119905C>T | GRCh37 |
| NC_000018.8:g.19373903C>T | NCBI36 |
| NG_012795.1:g.51677G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269228.10:c.2665G>A MANE Select | ENSP00000269228.4:p.Val889Met | |
| ENST00000269228.9:c.2665G>A | ENSP00000269228.4:p.Val889Met | |
| ENST00000540608.5:n.2579G>A | ||
| ENST00000586718.1:n.456G>A | ||
| ENST00000591051.1:c.1743G>A | ||
| NM_000271.4:c.2665G>A | NP_000262.2:p.Val889Met | |
| XM_005258277.1:c.2716G>A | XP_005258334.1:p.Val906Met | |
| XM_005258278.3:c.2716G>A | XP_005258335.1:p.Val906Met | |
| XM_005258279.1:c.2665G>A | XP_005258336.1:p.Val889Met | |
| XM_006722479.2:c.2716G>A | XP_006722542.1:p.Val906Met | |
| XM_011526015.1:c.2251G>A | XP_011524317.1:p.Val751Met | |
| XM_005258278.5:c.2716G>A | XP_005258335.1:p.Val906Met | |
| XM_005258279.2:c.2665G>A | XP_005258336.1:p.Val889Met | |
| XM_006722479.3:c.2716G>A | XP_006722542.1:p.Val906Met | |
| XM_017025784.1:c.2716G>A | XP_016881273.1:p.Val906Met | |
| XM_017025785.1:c.2716G>A | XP_016881274.1:p.Val906Met | |
| XM_017025786.1:c.2665G>A | XP_016881275.1:p.Val889Met | |
| XM_017025787.1:c.2665G>A | XP_016881276.1:p.Val889Met | |
| NM_000271.5:c.2665G>A MANE Select | NP_000262.2:p.Val889Met |