Linked Data
ClinVar Variation Id:
2884
dbSNP Id:
rs104894518
ExAC:
16:30997933 G / A
gnomAD v2:
16-30997933-G-A
gnomAD v3:
16-30986612-G-A
gnomAD v4:
16-30986612-G-A
COSMIC:
COSM275498
PubMed:
PMID:12679481
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30986612G>A , CM000678.2:g.30986612G>A | GRCh38 |
| NC_000016.9:g.30997933G>A , CM000678.1:g.30997933G>A | GRCh37 |
| NC_000016.8:g.30905434G>A | NCBI36 |
| NG_012346.1:g.6415G>A | |
| NG_052948.1:g.34319G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297679.10:c.439G>A MANE Select | ENSP00000297679.5:p.Glu147Lys | |
| ENST00000262520.10:c.439G>A | ENSP00000262520.6:p.Glu147Lys | |
| ENST00000297679.9:c.439G>A | ENSP00000297679.5:p.Glu147Lys | |
| ENST00000562932.5:c.562G>A | ENSP00000459852.1:p.Glu188Lys | |
| ENST00000574447.1:c.439G>A | ENSP00000459689.1:p.Glu147Lys | |
| NM_001142777.1:c.439G>A | NP_001136249.1:p.Glu147Lys | |
| NM_001142778.1:c.439G>A | NP_001136250.1:p.Glu147Lys | |
| NM_025193.3:c.439G>A | NP_079469.2:p.Glu147Lys | |
| XM_005255601.3:c.439G>A | XP_005255658.2:p.Glu147Lys | |
| XM_011545960.1:c.439G>A | XP_011544262.1:p.Glu147Lys | |
| XM_011545961.1:c.439G>A | XP_011544263.1:p.Glu147Lys | |
| XM_011545962.1:c.439G>A | XP_011544264.1:p.Glu147Lys | |
| XM_011545960.2:c.439G>A | XP_011544262.1:p.Glu147Lys | |
| XM_011545962.2:c.439G>A | XP_011544264.1:p.Glu147Lys | |
| XM_017023732.1:c.439G>A | XP_016879221.1:p.Glu147Lys | |
| NM_025193.4:c.439G>A MANE Select | NP_079469.2:p.Glu147Lys | |
| NM_001142777.2:c.439G>A | NP_001136249.1:p.Glu147Lys | |
| NM_001142778.2:c.439G>A | NP_001136250.1:p.Glu147Lys |