Linked Data
dbSNP Id:
rs993749957
gnomAD v2:
4-123772566-G-A
gnomAD v3:
4-122851411-G-A
gnomAD v4:
4-122851411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122851411G>A , CM000666.2:g.122851411G>A | GRCh38 |
| NC_000004.11:g.123772566G>A , CM000666.1:g.123772566G>A | GRCh37 |
| NC_000004.10:g.123992016G>A | NCBI36 |
| NG_029067.1:g.29704G>A | |
| NG_029067.2:g.29704G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264498.9:c.577+24059G>A | ENSP00000264498.4:n.577+24059G>A | |
| ENST00000264498.8:c.577+24059G>A | ENSP00000264498.4:n.577+24059G>A | |
| ENST00000644866.2:c.178+24059G>A MANE Select | ENSP00000494222.1:n.178+24059G>A | |
| ENST00000264498.7:c.577+24059G>A | ENSP00000264498.3:n.577+24059G>A | |
| ENST00000608478.1:c.178+24059G>A | ENSP00000477134.1:n.178+24059G>A | |
| ENST00000614010.4:c.577+24059G>A | ENSP00000478620.1:n.577+24059G>A | |
| NM_002006.4:c.577+24059G>A | NP_001997.5:n.577+24059G>A | |
| NM_001361665.1:c.178+24059G>A | NP_001348594.1:n.178+24059G>A | |
| NM_002006.5:c.577+24059G>A | NP_001997.5:n.577+24059G>A | |
| NM_001361665.2:c.178+24059G>A MANE Select | NP_001348594.1:n.178+24059G>A | |
| NM_002006.6:c.577+24059G>A | NP_001997.5:n.577+24059G>A |