Linked Data
dbSNP Id:
rs1056218424
gnomAD v2:
4-74274997-A-G
gnomAD v3:
4-73409280-A-G
gnomAD v4:
4-73409280-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73409280A>G , CM000666.2:g.73409280A>G | GRCh38 |
| NC_000004.11:g.74274997A>G , CM000666.1:g.74274997A>G | GRCh37 |
| NC_000004.10:g.74493861A>G | NCBI36 |
| NG_009291.1:g.10026A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.483-75A>G MANE Select | ENSP00000295897.4:n.483-75A>G | |
| ENST00000295897.8:c.483-75A>G | ENSP00000295897.4:n.483-75A>G | |
| ENST00000401494.7:c.138-75A>G | ENSP00000384695.3:n.138-75A>G | |
| ENST00000415165.6:c.138-2716A>G | ENSP00000401820.2:n.138-2716A>G | |
| ENST00000441319.5:c.489-75A>G | ENSP00000392541.1:n.489-75A>G | |
| ENST00000476441.6:c.80-75A>G | ENSP00000423727.1:n.80-75A>G | |
| ENST00000503124.5:c.33-75A>G | ENSP00000421027.1:n.33-75A>G | |
| ENST00000505649.5:n.169-75A>G | ||
| ENST00000509063.5:c.483-75A>G | ENSP00000422784.1:n.483-75A>G | |
| ENST00000514786.1:n.452-75A>G | ||
| ENST00000621085.4:c.483-75A>G | ENSP00000483421.1:n.483-75A>G | |
| ENST00000621628.4:c.486+204A>G | ENSP00000480485.1:n.486+204A>G | |
| NM_000477.5:c.483-75A>G | NP_000468.1:n.483-75A>G | |
| NM_000477.6:c.483-75A>G | NP_000468.1:n.483-75A>G | |
| NM_000477.7:c.483-75A>G MANE Select | NP_000468.1:n.483-75A>G |