Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863074G= , CM000685.2:g.154863074G= | GRCh38 |
| NC_000023.10:g.154091349G= , CM000685.1:g.154091349G= | GRCh37 |
| NC_000023.9:g.153744543G= | NCBI36 |
| NG_011403.1:g.164650C= | |
| NG_011403.2:g.164650C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6574+9C= MANE Select | ENSP00000353393.4:n.6574+9C= | |
| ENST00000644698.1:c.307+9C= | ENSP00000495706.1:n.307+9C= | |
| ENST00000330287.10:c.169+9C= | ENSP00000327895.6:n.169+9C= | |
| ENST00000360256.8:c.6574+9C= | ENSP00000353393.4:n.6574+9C= | |
| NM_000132.3:c.6574+9C= | NP_000123.1:n.6574+9C= | |
| NM_019863.2:c.169+9C= | NP_063916.1:n.169+9C= | |
| XM_011531126.1:c.6469+9C= | XP_011529428.1:n.6469+9C= | |
| NM_000132.4:c.6574+9C= MANE Select | NP_000123.1:n.6574+9C= | |
| NM_019863.3:c.169+9C= | NP_063916.1:n.169+9C= |