Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44386132C>G , CM000679.2:g.44386132C>G | GRCh38 |
| NC_000017.10:g.42463500C>G , CM000679.1:g.42463500C>G | GRCh37 |
| NC_000017.9:g.39819026C>G | NCBI36 |
| NG_008331.1:g.8374G>C , LRG_479:g.8374G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.189-1G>C MANE Select | NP_000410.2:n.189-1G>C |
| ENST00000262407.6:c.189-1G>C MANE Select | ENSP00000262407.5:n.189-1G>C |
| NM_000419.3:c.189-1G>C , LRG_479t1:c.189-1G>C | NP_000410.2:n.189-1G>C |
| NM_000419.4:c.189-1G>C | NP_000410.2:n.189-1G>C |
| ENST00000262407.5:c.189-1G>C | ENSP00000262407.5:n.189-1G>C |
| XM_011524749.1:c.189-1G>C | XP_011523051.1:n.189-1G>C |
| XM_011524750.1:c.189-1G>C | XP_011523052.1:n.189-1G>C |