Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46377718T>C , CM000664.2:g.46377718T>C | GRCh38 |
| NC_000002.11:g.46604857T>C , CM000664.1:g.46604857T>C | GRCh37 |
| NC_000002.10:g.46458361T>C | NCBI36 |
| NG_016000.1:g.85317T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001430.5:c.1250-176T>C MANE Select | NP_001421.2:n.1250-176T>C |
| ENST00000263734.5:c.1250-176T>C MANE Select | ENSP00000263734.3:n.1250-176T>C |
| NM_001430.4:c.1250-176T>C | NP_001421.2:n.1250-176T>C |
| ENST00000263734.4:c.1250-176T>C | ENSP00000263734.3:n.1250-176T>C |
| ENST00000483692.1:n.418-176T>C | |
| XM_011532698.1:c.1289-176T>C | XP_011531000.1:n.1289-176T>C |
| XM_011532698.2:c.1289-176T>C | XP_011531000.1:n.1289-176T>C |