Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137569113G>T , CM000685.2:g.137569113G>T | GRCh38 |
| NC_000023.10:g.136651272G>T , CM000685.1:g.136651272G>T | GRCh37 |
| NC_000023.9:g.136478938G>T | NCBI36 |
| NG_008115.1:g.7927G>T | |
| NG_008115.2:g.7987G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.1224+48G>T MANE Select | ENSP00000287538.5:n.1224+48G>T | |
| ENST00000287538.9:c.1224+48G>T | ENSP00000287538.5:n.1224+48G>T | |
| ENST00000370606.3:c.1224+48G>T | ENSP00000359638.3:n.1224+48G>T | |
| ENST00000478471.1:n.261+48G>T | ||
| NM_003413.3:c.1224+48G>T | NP_003404.1:n.1224+48G>T | |
| NM_001330661.1:c.1224+48G>T | NP_001317590.1:n.1224+48G>T | |
| NM_003413.4:c.1224+48G>T MANE Select | NP_003404.1:n.1224+48G>T |