Linked Data
ClinVar Variation Id:
2838365
ClinVar RCV Id:
RCV003695017
dbSNP Id:
rs781327820
ExAC:
2:215843660 C / T
gnomAD v2:
2-215843660-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214978936C>T , CM000664.2:g.214978936C>T | GRCh38 |
| NC_000002.11:g.215843660C>T , CM000664.1:g.215843660C>T | GRCh37 |
| NC_000002.10:g.215551905C>T | NCBI36 |
| NG_007074.1:g.164492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.4845G>A MANE Select | ENSP00000272895.7:p.Glu1615= | |
| ENST00000272895.11:c.4845G>A | ENSP00000272895.7:p.Glu1615= | |
| ENST00000389661.4:c.3891G>A | ENSP00000374312.4:p.Glu1297= | |
| NM_015657.3:c.3891G>A | NP_056472.2:p.Glu1297= | |
| NM_173076.2:c.4845G>A | NP_775099.2:p.Glu1615= | |
| NR_103740.1:n.5145G>A | ||
| XM_011510951.1:c.4854G>A | XP_011509253.1:p.Glu1618= | |
| XM_011510952.1:c.4854G>A | XP_011509254.1:p.Glu1618= | |
| XM_011510951.2:c.4854G>A | XP_011509253.1:p.Glu1618= | |
| NM_173076.3:c.4845G>A MANE Select | NP_775099.2:p.Glu1615= | |
| NR_103740.2:n.5343G>A | ||
| NM_015657.4:c.3891G>A | NP_056472.2:p.Glu1297= |