Linked Data
ClinVar Variation Id:
794196
dbSNP Id:
rs375688949
ExAC:
4:25125857 G / C
gnomAD v2:
4-25125857-G-C
gnomAD v3:
4-25124235-G-C
gnomAD v4:
4-25124235-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25124235G>C , CM000666.2:g.25124235G>C | GRCh38 |
| NC_000004.11:g.25125857G>C , CM000666.1:g.25125857G>C | GRCh37 |
| NC_000004.10:g.24734955G>C | NCBI36 |
| NG_028222.1:g.41348C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.1212-10C>G MANE Select | ENSP00000371535.2:n.1212-10C>G | |
| ENST00000680581.1:c.*86-10C>G | ENSP00000506483.1:n.*86-10C>G | |
| ENST00000680824.1:n.2428-10C>G | ||
| ENST00000681071.1:n.1504-10C>G | ||
| ENST00000681341.1:n.2259-10C>G | ||
| ENST00000681374.1:n.568-10C>G | ||
| ENST00000681948.1:c.1467-10C>G | ENSP00000505991.1:n.1467-10C>G | |
| ENST00000358971.7:c.*1010-10C>G | ENSP00000351857.3:n.*1010-10C>G | |
| ENST00000382103.6:c.1212-10C>G | ENSP00000371535.2:n.1212-10C>G | |
| ENST00000503150.1:c.400-10C>G | ||
| ENST00000514585.5:c.*913-10C>G | ENSP00000421880.1:n.*913-10C>G | |
| NM_016955.3:c.1212-10C>G | NP_058651.3:n.1212-10C>G | |
| XM_005248168.2:c.975-10C>G | XP_005248225.1:n.975-10C>G | |
| XM_006713965.2:c.1032-10C>G | XP_006714028.1:n.1032-10C>G | |
| XM_011513846.1:c.1209-10C>G | XP_011512148.1:n.1209-10C>G | |
| XM_011513847.1:c.1179-10C>G | XP_011512149.1:n.1179-10C>G | |
| XM_011513848.1:c.1032-10C>G | XP_011512150.1:n.1032-10C>G | |
| XM_011513846.2:c.1209-10C>G | XP_011512148.1:n.1209-10C>G | |
| XM_011513847.2:c.1179-10C>G | XP_011512149.1:n.1179-10C>G | |
| XM_017008277.1:c.1467-10C>G | XP_016863766.1:n.1467-10C>G | |
| XM_017008278.1:c.789-10C>G | XP_016863767.1:n.789-10C>G | |
| NM_016955.4:c.1212-10C>G MANE Select | NP_058651.3:n.1212-10C>G |