Linked Data
dbSNP Id:
rs781328310
ExAC:
4:111026730 C / T
gnomAD v2:
4-111026730-C-T
gnomAD v3:
4-110105574-C-T
gnomAD v4:
4-110105574-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.110105574C>T , CM000666.2:g.110105574C>T | GRCh38 |
| NC_000004.11:g.111026730C>T , CM000666.1:g.111026730C>T | GRCh37 |
| NC_000004.10:g.111246179C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302274.8:c.144G>A MANE Select | ENSP00000304736.3:p.Arg48= | |
| ENST00000302274.7:c.144G>A | ENSP00000304736.3:p.Arg48= | |
| ENST00000394607.7:c.144G>A | ENSP00000378105.3:p.Arg48= | |
| ENST00000503885.1:c.144G>A | ENSP00000426086.1:p.Arg48= | |
| ENST00000506461.1:n.359G>A | ||
| ENST00000506625.5:c.144G>A | ENSP00000425488.1:p.Arg48= | |
| ENST00000514184.5:c.144G>A | ENSP00000424023.1:p.Arg48= | |
| NM_001130721.1:c.144G>A | NP_001124193.1:p.Arg48= | |
| NM_024090.2:c.144G>A | NP_076995.1:p.Arg48= | |
| XM_011532233.1:c.144G>A | XP_011530535.1:p.Arg48= | |
| XM_011532234.1:c.144G>A | XP_011530536.1:p.Arg48= | |
| XM_011532235.1:c.-138G>A | XP_011530537.1:n.-138G>A | |
| XM_011532233.3:c.144G>A | XP_011530535.1:p.Arg48= | |
| XM_011532234.3:c.144G>A | XP_011530536.1:p.Arg48= | |
| NM_001130721.2:c.144G>A | NP_001124193.1:p.Arg48= | |
| NM_024090.3:c.144G>A MANE Select | NP_076995.1:p.Arg48= |