Linked Data
dbSNP Id:
rs774720659
ExAC:
1:245027205 A / G
gnomAD v2:
1-245027205-A-G
gnomAD v4:
1-244863903-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863903A>G , CM000663.2:g.244863903A>G | GRCh38 |
| NC_000001.10:g.245027205A>G , CM000663.1:g.245027205A>G | GRCh37 |
| NC_000001.9:g.243093828A>G | NCBI36 |
| NG_042184.1:g.5623T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.83T>C | ||
| ENST00000283179.14:c.405T>C | ENSP00000283179.10:p.Asp135= | |
| ENST00000444376.7:c.405T>C | ENSP00000393151.2:p.Asp135= | |
| ENST00000476241.2:n.590T>C | ||
| ENST00000638475.1:c.189T>C | ENSP00000491305.1:p.Asp63= | |
| ENST00000638952.1:n.636T>C | ||
| ENST00000640218.2:c.405T>C MANE Select | ENSP00000491215.1:p.Asp135= | |
| ENST00000640306.1:c.405T>C | ENSP00000491685.1:p.Asp135= | |
| ENST00000640440.1:c.105T>C | ENSP00000491263.1:p.Asp35= | |
| ENST00000649899.1:n.629T>C | ||
| ENST00000283179.13:c.405T>C | ENSP00000283179.9:p.Asp135= | |
| ENST00000444376.6:c.405T>C | ENSP00000393151.2:p.Asp135= | |
| ENST00000476241.1:n.589T>C | ||
| NM_004501.3:c.405T>C | NP_004492.2:p.Asp135= | |
| NM_031844.2:c.405T>C | NP_114032.2:p.Asp135= | |
| NM_031844.3:c.405T>C MANE Select | NP_114032.2:p.Asp135= |