Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31337636C>A , CM000664.2:g.31337636C>A | GRCh38 |
| NC_000002.11:g.31560502C>A , CM000664.1:g.31560502C>A | GRCh37 |
| NC_000002.10:g.31414006C>A | NCBI36 |
| NG_008871.1:g.82110G>T | |
| NG_008871.2:g.82110G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379416.4:c.3951+5G>T MANE Select | ENSP00000368727.3:n.3951+5G>T | |
| ENST00000379416.3:c.3951+5G>T | ENSP00000368727.3:n.3951+5G>T | |
| NM_000379.3:c.3951+5G>T | NP_000370.2:n.3951+5G>T | |
| XM_011533095.1:c.3948+5G>T | XP_011531397.1:n.3948+5G>T | |
| XM_011533095.2:c.3948+5G>T | XP_011531397.1:n.3948+5G>T | |
| NM_000379.4:c.3951+5G>T MANE Select | NP_000370.2:n.3951+5G>T |