Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863125G= , CM000685.2:g.154863125G= | GRCh38 |
| NC_000023.10:g.154091400G= , CM000685.1:g.154091400G= | GRCh37 |
| NC_000023.9:g.153744594G= | NCBI36 |
| NG_011403.1:g.164599C= | |
| NG_011403.2:g.164599C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6532C= MANE Select | ENSP00000353393.4:p.Arg2178= | |
| ENST00000644698.1:c.265C= | ENSP00000495706.1:p.Arg89= | |
| ENST00000330287.10:c.127C= | ENSP00000327895.6:p.Arg43= | |
| ENST00000360256.8:c.6532C= | ENSP00000353393.4:p.Arg2178= | |
| NM_000132.3:c.6532C= | NP_000123.1:p.Arg2178= | |
| NM_019863.2:c.127C= | NP_063916.1:p.Arg43= | |
| XM_011531126.1:c.6427C= | XP_011529428.1:p.Arg2143= | |
| NM_000132.4:c.6532C= MANE Select | NP_000123.1:p.Arg2178= | |
| NM_019863.3:c.127C= | NP_063916.1:p.Arg43= |