gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136229894A>C , CM000671.2:g.136229894A>C | GRCh38 |
| NC_000009.11:g.139121740A>C , CM000671.1:g.139121740A>C | GRCh37 |
| NC_000009.10:g.138261561A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358701.10:c.329-3020T>G MANE Select | ENSP00000351536.5:n.329-3020T>G | |
| ENST00000358701.9:c.329-3020T>G | ENSP00000351536.5:n.329-3020T>G | |
| ENST00000616829.4:c.329-3020T>G | ENSP00000483961.1:n.329-3020T>G | |
| NM_181701.3:c.329-3020T>G | NP_859052.3:n.329-3020T>G | |
| NM_181701.4:c.329-3020T>G MANE Select | NP_859052.3:n.329-3020T>G |