Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31666524A>C , CM000683.2:g.31666524A>C | GRCh38 |
| NC_000021.8:g.33038837A>C , CM000683.1:g.33038837A>C | GRCh37 |
| NC_000021.7:g.31960708A>C | NCBI36 |
| NG_008689.1:g.11903A>C , LRG_652:g.11903A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000454.5:c.239+6A>C MANE Select | NP_000445.1:n.239+6A>C |
| ENST00000270142.11:c.239+6A>C MANE Select | ENSP00000270142.7:n.239+6A>C |
| NM_000454.4:c.239+6A>C , LRG_652t1:c.239+6A>C | NP_000445.1:n.239+6A>C |
| ENST00000270142.10:c.239+6A>C | ENSP00000270142.6:n.239+6A>C |
| ENST00000389995.4:c.182+6A>C | ENSP00000374645.4:n.182+6A>C |
| ENST00000470944.1:n.1167+6A>C | |
| ENST00000476106.5:n.502+6A>C |