Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48459457C= , CM000675.2:g.48459457C= | GRCh38 |
| NC_000013.10:g.49033593C= , CM000675.1:g.49033593C= | GRCh37 |
| NC_000013.9:g.47931594C= | NCBI36 |
| NG_009009.1:g.160711C= , LRG_517:g.160711C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1961-231C= MANE Select | ENSP00000267163.4:n.1961-231C= | |
| ENST00000643064.1:c.194+78014C= | ||
| ENST00000650461.1:c.1961-231C= | ENSP00000497193.1:n.1961-231C= | |
| ENST00000267163.4:c.1961-231C= | ENSP00000267163.4:n.1961-231C= | |
| NM_000321.2:c.1961-231C= , LRG_517t1:c.1961-231C= | NP_000312.2:n.1961-231C= | |
| XM_011535171.1:c.1700-231C= | XP_011533473.1:n.1700-231C= | |
| XM_011535171.2:c.1700-231C= | XP_011533473.1:n.1700-231C= | |
| NM_000321.3:c.1961-231C= MANE Select | NP_000312.2:n.1961-231C= |