Linked Data
ClinVar Variation Id:
528420
dbSNP Id:
rs995323393
gnomAD v2:
5-127637113-C-T
gnomAD v3:
5-128301421-C-T
gnomAD v4:
5-128301421-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128301421C>T , CM000667.2:g.128301421C>T | GRCh38 |
| NC_000005.9:g.127637113C>T , CM000667.1:g.127637113C>T | GRCh37 |
| NC_000005.8:g.127665012C>T | NCBI36 |
| NG_008750.1:g.241623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2791G>A | ||
| ENST00000703785.1:n.2710G>A | ||
| ENST00000262464.9:c.6007G>A MANE Select | ENSP00000262464.4:p.Glu2003Lys | |
| ENST00000262464.8:c.6007G>A | ENSP00000262464.4:p.Glu2003Lys | |
| ENST00000508053.5:c.6007G>A | ENSP00000424571.1:p.Glu2003Lys | |
| ENST00000619499.4:c.6004G>A | ENSP00000482132.1:p.Glu2002Lys | |
| NM_001999.3:c.6007G>A | NP_001990.2:p.Glu2003Lys | |
| XM_017009228.2:c.5854G>A | XP_016864717.1:p.Glu1952Lys | |
| NM_001999.4:c.6007G>A MANE Select | NP_001990.2:p.Glu2003Lys |