Linked Data
dbSNP Id:
rs374565082
ExAC:
3:49059882 G / A
gnomAD v2:
3-49059882-G-A
gnomAD v3:
3-49022449-G-A
gnomAD v4:
3-49022449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49022449G>A , CM000665.2:g.49022449G>A | GRCh38 |
| NC_000003.11:g.49059882G>A , CM000665.1:g.49059882G>A | GRCh37 |
| NC_000003.10:g.49034886G>A | NCBI36 |
| NG_012091.1:g.11994C>T | |
| NG_016282.1:g.6975G>A | |
| NG_033126.1:g.3623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326925.11:c.181G>A MANE Select | ENSP00000323076.5:p.Asp61Asn | |
| ENST00000326912.8:c.10G>A | ENSP00000323003.4:p.Asp4Asn | |
| ENST00000326925.10:c.181G>A | ENSP00000323076.5:p.Asp61Asn | |
| ENST00000395458.6:c.10G>A | ENSP00000378843.2:p.Asp4Asn | |
| ENST00000451378.2:c.10G>A | ENSP00000402465.2:p.Asp4Asn | |
| ENST00000480392.1:n.205G>A | ||
| ENST00000496152.1:n.337G>A | ||
| NM_199069.1:c.181G>A | NP_951032.1:p.Asp61Asn | |
| NM_199070.1:c.10G>A | NP_951033.1:p.Asp4Asn | |
| NM_199073.1:c.10G>A | NP_951047.1:p.Asp4Asn | |
| NM_199074.1:c.10G>A | NP_951056.1:p.Asp4Asn | |
| NM_199069.2:c.181G>A MANE Select | NP_951032.1:p.Asp61Asn | |
| NM_199070.2:c.10G>A | NP_951033.1:p.Asp4Asn | |
| NM_199073.2:c.10G>A | NP_951047.1:p.Asp4Asn | |
| NM_199074.2:c.10G>A | NP_951056.1:p.Asp4Asn |