Linked Data
dbSNP Id:
rs1302301351
gnomAD v2:
4-25146331-A-G
gnomAD v3:
4-25144709-A-G
gnomAD v4:
4-25144709-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144709A>G , CM000666.2:g.25144709A>G | GRCh38 |
| NC_000004.11:g.25146331A>G , CM000666.1:g.25146331A>G | GRCh37 |
| NC_000004.10:g.24755429A>G | NCBI36 |
| NG_028222.1:g.20874T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382103.7:c.1026+65T>C MANE Select | ENSP00000371535.2:n.1026+65T>C | |
| ENST00000680581.1:c.1026+65T>C | ENSP00000506483.1:n.1026+65T>C | |
| ENST00000680824.1:n.2242+65T>C | ||
| ENST00000681071.1:n.1318+65T>C | ||
| ENST00000681341.1:n.2167+65T>C | ||
| ENST00000681948.1:c.1281+65T>C | ENSP00000505991.1:n.1281+65T>C | |
| ENST00000358971.7:c.*824+65T>C | ENSP00000351857.3:n.*824+65T>C | |
| ENST00000382103.6:c.1026+65T>C | ENSP00000371535.2:n.1026+65T>C | |
| ENST00000503150.1:c.308+65T>C | ||
| ENST00000505513.1:n.326+65T>C | ||
| ENST00000514585.5:c.*727+65T>C | ENSP00000421880.1:n.*727+65T>C | |
| NM_016955.3:c.1026+65T>C | NP_058651.3:n.1026+65T>C | |
| XM_005248168.2:c.789+65T>C | XP_005248225.1:n.789+65T>C | |
| XM_006713965.2:c.846+65T>C | XP_006714028.1:n.846+65T>C | |
| XM_011513846.1:c.1023+65T>C | XP_011512148.1:n.1023+65T>C | |
| XM_011513847.1:c.993+65T>C | XP_011512149.1:n.993+65T>C | |
| XM_011513848.1:c.846+65T>C | XP_011512150.1:n.846+65T>C | |
| XM_011513846.2:c.1023+65T>C | XP_011512148.1:n.1023+65T>C | |
| XM_011513847.2:c.993+65T>C | XP_011512149.1:n.993+65T>C | |
| XM_017008277.1:c.1281+65T>C | XP_016863766.1:n.1281+65T>C | |
| XM_017008278.1:c.603+65T>C | XP_016863767.1:n.603+65T>C | |
| NM_016955.4:c.1026+65T>C MANE Select | NP_058651.3:n.1026+65T>C |