Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.151403604A>C , CM000685.2:g.151403604A>C | GRCh38 |
| NC_000023.10:g.150572076A>C , CM000685.1:g.150572076A>C | GRCh37 |
| NC_000023.9:g.150322734A>C | NCBI36 |
| NG_016761.1:g.11420A>C , LRG_860:g.11420A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017980.4:c.54-27A>C MANE Select | NP_001017980.1:n.54-27A>C |
| ENST00000330374.7:c.54-27A>C MANE Select | ENSP00000333255.6:n.54-27A>C |
| NM_001017980.3:c.54-27A>C , LRG_860t1:c.54-27A>C | NP_001017980.1:n.54-27A>C |
| NM_001363810.1:c.219-27A>C | NP_001350739.1:n.219-27A>C |
| ENST00000330374.6:c.54-27A>C | ENSP00000333255.6:n.54-27A>C |
| ENST00000370361.5:c.219-27A>C | ENSP00000359386.1:n.219-27A>C |
| ENST00000477649.1:n.134-27A>C | |
| XM_011531125.1:c.219-27A>C | XP_011529427.1:n.219-27A>C |