Linked Data
ClinVar Variation Id:
335122
dbSNP Id:
rs767560639
ExAC:
2:238275895 A / G
gnomAD v2:
2-238275895-A-G
gnomAD v4:
2-237367252-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237367252A>G , CM000664.2:g.237367252A>G | GRCh38 |
| NC_000002.11:g.238275895A>G , CM000664.1:g.238275895A>G | GRCh37 |
| NC_000002.10:g.237940634A>G | NCBI36 |
| NG_008676.1:g.51956T>C , LRG_473:g.51956T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4317T>C | ENSP00000315873.4:p.Asp1439= | |
| ENST00000684597.1:c.265T>C | ||
| ENST00000295550.9:c.4935T>C MANE Select | ENSP00000295550.4:p.Asp1645= | |
| ENST00000295550.8:c.4935T>C | ENSP00000295550.4:p.Asp1645= | |
| ENST00000347401.7:c.3114T>C | ENSP00000315609.4:p.Asp1038= | |
| ENST00000353578.8:c.4317T>C | ENSP00000315873.4:p.Asp1439= | |
| ENST00000409809.5:c.4317T>C | ENSP00000386844.1:p.Asp1439= | |
| ENST00000472056.5:c.3114T>C | ENSP00000418285.1:p.Asp1038= | |
| NM_004369.3:c.4935T>C , LRG_473t1:c.4935T>C | NP_004360.2:p.Asp1645= | |
| NM_057166.4:c.3114T>C | NP_476507.3:p.Asp1038= | |
| NM_057167.3:c.4317T>C | NP_476508.2:p.Asp1439= | |
| XM_005246065.1:c.4335T>C | XP_005246122.1:p.Asp1445= | |
| XM_005246066.1:c.3714T>C | XP_005246123.1:p.Asp1238= | |
| XM_006712253.1:c.4434T>C | XP_006712316.1:p.Asp1478= | |
| XM_011510574.1:c.4932T>C | XP_011508876.1:p.Asp1644= | |
| XM_011510575.1:c.2529T>C | XP_011508877.1:p.Asp843= | |
| XM_017003304.1:c.2529T>C | XP_016858793.1:p.Asp843= | |
| XM_024452684.1:c.3714T>C | XP_024308452.1:p.Asp1238= | |
| NM_004369.4:c.4935T>C MANE Select | NP_004360.2:p.Asp1645= | |
| NM_057166.5:c.3114T>C | NP_476507.3:p.Asp1038= | |
| NM_057167.4:c.4317T>C | NP_476508.2:p.Asp1439= |