Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31541181G>C , CM000680.2:g.31541181G>C | GRCh38 |
| NC_000018.9:g.29121144G>C , CM000680.1:g.29121144G>C | GRCh37 |
| NC_000018.8:g.27375142G>C | NCBI36 |
| NG_007072.3:g.47940G>C , LRG_397:g.47940G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1880-12G>C MANE Select | ENSP00000261590.8:n.1880-12G>C | |
| ENST00000261590.12:c.1880-12G>C | ENSP00000261590.8:n.1880-12G>C | |
| NM_001943.3:c.1880-12G>C , LRG_397t1:c.1880-12G>C | NP_001934.2:n.1880-12G>C | |
| NM_001943.4:c.1880-12G>C | NP_001934.2:n.1880-12G>C | |
| XM_024451095.1:c.1346-12G>C | XP_024306863.1:n.1346-12G>C | |
| NM_001943.5:c.1880-12G>C MANE Select | NP_001934.2:n.1880-12G>C |