Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922677A>G , CM000676.2:g.102922677A>G | GRCh38 |
| NC_000014.8:g.103389014A>G , CM000676.1:g.103389014A>G | GRCh37 |
| NC_000014.7:g.102458767A>G | NCBI36 |
| NG_008276.2:g.5022A>G , LRG_642:g.5022A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.-12A>G MANE Select | ENSP00000299155.6:n.-12A>G | |
| ENST00000299155.9:c.-12A>G | ENSP00000299155.5:n.-12A>G | |
| NM_030943.3:c.-12A>G , LRG_642t1:c.-12A>G | NP_112205.2:n.-12A>G | |
| XM_011537202.1:c.-193A>G | XP_011535504.1:n.-193A>G | |
| XM_011537202.3:c.-193A>G | XP_011535504.1:n.-193A>G | |
| XM_024449714.1:c.85A>G | XP_024305482.1:p.Ser29Gly | |
| NM_030943.4:c.-12A>G MANE Select | NP_112205.2:n.-12A>G |