Linked Data
dbSNP Id:
rs771996464
ExAC:
2:203383686 G / A
gnomAD v2:
2-203383686-G-A
gnomAD v3:
2-202518963-G-A
gnomAD v4:
2-202518963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202518963G>A , CM000664.2:g.202518963G>A | GRCh38 |
| NC_000002.11:g.203383686G>A , CM000664.1:g.203383686G>A | GRCh37 |
| NC_000002.10:g.203091931G>A | NCBI36 |
| NG_009363.1:g.147637G>A , LRG_712:g.147637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.763G>A MANE Select | ENSP00000363708.4:p.Asp255Asn | |
| ENST00000638587.1:c.694G>A | ENSP00000491062.1:p.Asp232Asn | |
| ENST00000374574.2:c.763G>A | ENSP00000363702.2:p.Asp255Asn | |
| ENST00000374580.8:c.763G>A | ENSP00000363708.4:p.Asp255Asn | |
| NM_001204.6:c.763G>A , LRG_712t1:c.763G>A | NP_001195.2:p.Asp255Asn | |
| XM_011511687.1:c.763G>A | XP_011509989.1:p.Asp255Asn | |
| XM_011511688.1:c.763G>A | XP_011509990.1:p.Asp255Asn | |
| NM_001204.7:c.763G>A MANE Select | NP_001195.2:p.Asp255Asn |