Linked Data
dbSNP Id:
rs372346575
ExAC:
2:20205467 C / T
gnomAD v2:
2-20205467-C-T
gnomAD v3:
2-20005706-C-T
gnomAD v4:
2-20005706-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20005706C>T , CM000664.2:g.20005706C>T | GRCh38 |
| NC_000002.11:g.20205467C>T , CM000664.1:g.20205467C>T | GRCh37 |
| NC_000002.10:g.20068948C>T | NCBI36 |
| NG_008087.1:g.11989G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.790+38G>A MANE Select | ENSP00000383894.3:n.790+38G>A | |
| ENST00000407540.7:c.790+38G>A | ENSP00000383894.3:n.790+38G>A | |
| ENST00000421259.2:c.790+38G>A | ENSP00000398753.2:n.790+38G>A | |
| NM_002381.4:c.790+38G>A | NP_002372.1:n.790+38G>A | |
| NM_002381.5:c.790+38G>A MANE Select | NP_002372.1:n.790+38G>A |