Linked Data
dbSNP Id:
rs575551758
gnomAD v2:
12-57527221-G-A
gnomAD v3:
12-57133438-G-A
gnomAD v4:
12-57133438-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57133438G>A , CM000674.2:g.57133438G>A | GRCh38 |
| NC_000012.11:g.57527221G>A , CM000674.1:g.57527221G>A | GRCh37 |
| NC_000012.10:g.55813488G>A | NCBI36 |
| NG_016444.1:g.9940G>A | |
| NG_021272.2:g.3702C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243077.8:c.67+4407G>A MANE Select | ENSP00000243077.3:n.67+4407G>A | |
| ENST00000243077.7:c.67+4407G>A | ENSP00000243077.3:n.67+4407G>A | |
| ENST00000338962.8:c.67+4407G>A | ENSP00000341264.4:n.67+4407G>A | |
| ENST00000553277.5:c.67+4407G>A | ENSP00000451449.1:n.67+4407G>A | |
| ENST00000554174.1:c.67+4407G>A | ENSP00000451737.1:n.67+4407G>A | |
| NM_002332.2:c.67+4407G>A | NP_002323.2:n.67+4407G>A | |
| XM_017019303.1:c.67+4407G>A | XP_016874792.1:n.67+4407G>A | |
| NM_002332.3:c.67+4407G>A MANE Select | NP_002323.2:n.67+4407G>A |