Linked Data
dbSNP Id:
rs772729004
ExAC:
4:25146348 C / T
gnomAD v2:
4-25146348-C-T
gnomAD v4:
4-25144726-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144726C>T , CM000666.2:g.25144726C>T | GRCh38 |
| NC_000004.11:g.25146348C>T , CM000666.1:g.25146348C>T | GRCh37 |
| NC_000004.10:g.24755446C>T | NCBI36 |
| NG_028222.1:g.20857G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.1026+48G>A MANE Select | ENSP00000371535.2:n.1026+48G>A | |
| ENST00000680581.1:c.1026+48G>A | ENSP00000506483.1:n.1026+48G>A | |
| ENST00000680824.1:n.2242+48G>A | ||
| ENST00000681071.1:n.1318+48G>A | ||
| ENST00000681341.1:n.2167+48G>A | ||
| ENST00000681948.1:c.1281+48G>A | ENSP00000505991.1:n.1281+48G>A | |
| ENST00000358971.7:c.*824+48G>A | ENSP00000351857.3:n.*824+48G>A | |
| ENST00000382103.6:c.1026+48G>A | ENSP00000371535.2:n.1026+48G>A | |
| ENST00000503150.1:c.308+48G>A | ||
| ENST00000505513.1:n.326+48G>A | ||
| ENST00000514585.5:c.*727+48G>A | ENSP00000421880.1:n.*727+48G>A | |
| NM_016955.3:c.1026+48G>A | NP_058651.3:n.1026+48G>A | |
| XM_005248168.2:c.789+48G>A | XP_005248225.1:n.789+48G>A | |
| XM_006713965.2:c.846+48G>A | XP_006714028.1:n.846+48G>A | |
| XM_011513846.1:c.1023+48G>A | XP_011512148.1:n.1023+48G>A | |
| XM_011513847.1:c.993+48G>A | XP_011512149.1:n.993+48G>A | |
| XM_011513848.1:c.846+48G>A | XP_011512150.1:n.846+48G>A | |
| XM_011513846.2:c.1023+48G>A | XP_011512148.1:n.1023+48G>A | |
| XM_011513847.2:c.993+48G>A | XP_011512149.1:n.993+48G>A | |
| XM_017008277.1:c.1281+48G>A | XP_016863766.1:n.1281+48G>A | |
| XM_017008278.1:c.603+48G>A | XP_016863767.1:n.603+48G>A | |
| NM_016955.4:c.1026+48G>A MANE Select | NP_058651.3:n.1026+48G>A |