Linked Data
ClinVar Variation Id:
128638
dbSNP Id:
rs4135012
ExAC:
17:38450248 G / A
gnomAD v2:
17-38450248-G-A
gnomAD v3:
17-40293996-G-A
gnomAD v4:
17-40293996-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40293996G>A , CM000679.2:g.40293996G>A | GRCh38 |
| NC_000017.10:g.38450248G>A , CM000679.1:g.38450248G>A | GRCh37 |
| NC_000017.9:g.35703774G>A | NCBI36 |
| NG_028240.1:g.11103G>A | |
| NG_028240.2:g.11118G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209728.9:c.883G>A MANE Select | ENSP00000209728.4:p.Asp295Asn | |
| ENST00000649662.1:c.883G>A | ENSP00000497345.1:p.Asp295Asn | |
| ENST00000209728.8:c.883G>A | ENSP00000209728.4:p.Asp295Asn | |
| ENST00000582402.1:n.203-1360G>A | ||
| NM_001254.3:c.883G>A | NP_001245.1:p.Asp295Asn | |
| XM_011525541.1:c.883G>A | XP_011523843.1:p.Asp295Asn | |
| XM_011525542.1:c.883G>A | XP_011523844.1:p.Asp295Asn | |
| NM_001254.4:c.883G>A MANE Select | NP_001245.1:p.Asp295Asn | |
| XM_011525541.2:c.883G>A | XP_011523843.1:p.Asp295Asn |