dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.124225479T>A , CM000664.2:g.124225479T>A | GRCh38 |
| NC_000002.11:g.124983056T>A , CM000664.1:g.124983056T>A | GRCh37 |
| NC_000002.10:g.124699526T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682447.1:c.187+3670T>A MANE Select | ENSP00000508115.1:n.187+3670T>A | |
| ENST00000431078.1:c.187+3670T>A | ENSP00000399013.1:n.187+3670T>A | |
| ENST00000470921.1:n.105+3670T>A | ||
| NM_130773.3:c.187+3670T>A | NP_570129.1:n.187+3670T>A | |
| XM_006712258.1:c.187+3670T>A | XP_006712321.1:n.187+3670T>A | |
| XM_017003316.1:c.187+3670T>A | XP_016858805.1:n.187+3670T>A | |
| NM_001367498.1:c.187+3670T>A MANE Select | NP_001354427.1:n.187+3670T>A | |
| NM_130773.4:c.187+3670T>A | NP_570129.1:n.187+3670T>A |