Linked Data
dbSNP Id:
rs1110277
ExAC:
20:4854682 A / G
gnomAD v2:
20-4854682-A-G
gnomAD v3:
20-4874036-A-G
gnomAD v4:
20-4874036-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.4874036A>G , CM000682.2:g.4874036A>G | GRCh38 |
| NC_000020.10:g.4854682A>G , CM000682.1:g.4854682A>G | GRCh37 |
| NC_000020.9:g.4802682A>G | NCBI36 |
| NG_029959.1:g.132464T>C | |
| NG_029959.2:g.141258T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338244.6:c.1002T>C MANE Select | ENSP00000344322.1:p.Asp334= | |
| ENST00000338244.5:c.1002T>C | ENSP00000344322.1:p.Asp334= | |
| ENST00000379333.5:c.1002T>C | ENSP00000368637.1:p.Asp334= | |
| ENST00000423430.1:c.271T>C | ||
| ENST00000468355.5:n.1368T>C | ||
| ENST00000496331.1:n.602T>C | ||
| NM_005116.5:c.1002T>C | NP_005107.4:p.Asp334= | |
| NM_203327.1:c.1002T>C | NP_976072.1:p.Asp334= | |
| XM_005260904.2:c.537T>C | XP_005260961.1:p.Asp179= | |
| XM_011529414.1:c.1002T>C | XP_011527716.1:p.Asp334= | |
| XM_011529415.1:c.1002T>C | XP_011527717.1:p.Asp334= | |
| XM_011529416.1:c.1002T>C | XP_011527718.1:p.Asp334= | |
| XM_011529417.1:c.1002T>C | XP_011527719.1:p.Asp334= | |
| NM_005116.6:c.1002T>C MANE Select | NP_005107.4:p.Asp334= | |
| NM_203327.2:c.1002T>C | NP_976072.1:p.Asp334= |