Linked Data
ClinVar Variation Id:
2906501
ClinVar RCV Id:
RCV003734194
dbSNP Id:
rs534299884
ExAC:
4:25160742 A / C
gnomAD v2:
4-25160742-A-C
gnomAD v3:
4-25159120-A-C
gnomAD v4:
4-25159120-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25159120A>C , CM000666.2:g.25159120A>C | GRCh38 |
| NC_000004.11:g.25160742A>C , CM000666.1:g.25160742A>C | GRCh37 |
| NC_000004.10:g.24769840A>C | NCBI36 |
| NG_028222.1:g.6463T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.115-13T>G MANE Select | ENSP00000371535.2:n.115-13T>G | |
| ENST00000680581.1:c.115-13T>G | ENSP00000506483.1:n.115-13T>G | |
| ENST00000680824.1:n.1318T>G | ||
| ENST00000681166.1:n.1149T>G | ||
| ENST00000681341.1:n.1243T>G | ||
| ENST00000681640.1:n.209-13T>G | ||
| ENST00000681948.1:c.370-13T>G | ENSP00000505991.1:n.370-13T>G | |
| ENST00000358971.7:c.252-13T>G | ENSP00000351857.3:n.252-13T>G | |
| ENST00000382103.6:c.115-13T>G | ENSP00000371535.2:n.115-13T>G | |
| ENST00000513285.1:c.370-13T>G | ENSP00000423361.1:n.370-13T>G | |
| ENST00000514585.5:c.114+1136T>G | ENSP00000421880.1:n.114+1136T>G | |
| NM_016955.3:c.115-13T>G | NP_058651.3:n.115-13T>G | |
| XM_005248168.2:c.32+1136T>G | XP_005248225.1:n.32+1136T>G | |
| XM_006713965.2:c.-66-13T>G | XP_006714028.1:n.-66-13T>G | |
| XM_011513846.1:c.112-13T>G | XP_011512148.1:n.112-13T>G | |
| XM_011513847.1:c.82-13T>G | XP_011512149.1:n.82-13T>G | |
| XM_011513848.1:c.-66-13T>G | XP_011512150.1:n.-66-13T>G | |
| XM_011513846.2:c.112-13T>G | XP_011512148.1:n.112-13T>G | |
| XM_011513847.2:c.82-13T>G | XP_011512149.1:n.82-13T>G | |
| XM_017008277.1:c.370-13T>G | XP_016863766.1:n.370-13T>G | |
| XM_017008278.1:c.-332-13T>G | XP_016863767.1:n.-332-13T>G | |
| NM_016955.4:c.115-13T>G MANE Select | NP_058651.3:n.115-13T>G |