Linked Data
dbSNP Id:
rs1196368894
gnomAD v2:
4-74272541-G-T
gnomAD v3:
4-73406824-G-T
gnomAD v4:
4-73406824-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73406824G>T , CM000666.2:g.73406824G>T | GRCh38 |
| NC_000004.11:g.74272541G>T , CM000666.1:g.74272541G>T | GRCh37 |
| NC_000004.10:g.74491405G>T | NCBI36 |
| NG_009291.1:g.7570G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.9:c.270+63G>T MANE Select | ENSP00000295897.4:n.270+63G>T | |
| ENST00000295897.8:c.270+63G>T | ENSP00000295897.4:n.270+63G>T | |
| ENST00000401494.7:c.137+1651G>T | ENSP00000384695.3:n.137+1651G>T | |
| ENST00000415165.6:c.137+1651G>T | ENSP00000401820.2:n.137+1651G>T | |
| ENST00000441319.5:c.276+63G>T | ENSP00000392541.1:n.276+63G>T | |
| ENST00000476441.6:c.79+2418G>T | ENSP00000423727.1:n.79+2418G>T | |
| ENST00000503124.5:c.32+63G>T | ENSP00000421027.1:n.32+63G>T | |
| ENST00000509063.5:c.270+63G>T | ENSP00000422784.1:n.270+63G>T | |
| ENST00000510166.5:n.306+63G>T | ||
| ENST00000514786.1:n.239+63G>T | ||
| ENST00000515133.5:n.311+63G>T | ||
| ENST00000621085.4:c.270+63G>T | ENSP00000483421.1:n.270+63G>T | |
| ENST00000621628.4:c.270+63G>T | ENSP00000480485.1:n.270+63G>T | |
| NM_000477.5:c.270+63G>T | NP_000468.1:n.270+63G>T | |
| NM_000477.6:c.270+63G>T | NP_000468.1:n.270+63G>T | |
| NM_000477.7:c.270+63G>T MANE Select | NP_000468.1:n.270+63G>T |