Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202565733T= , CM000664.2:g.202565733T= | GRCh38 |
| NC_000002.11:g.203430456T= , CM000664.1:g.203430456T= | GRCh37 |
| NC_000002.10:g.203138701T= | NCBI36 |
| NG_009363.1:g.194407T= , LRG_712:g.194407T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001204.7:c.*5787T= MANE Select | NP_001195.2:n.*5787T= |
| ENST00000374580.10:c.*5787T= MANE Select | ENSP00000363708.4:n.*5787T= |
| NM_001204.6:c.*5787T= , LRG_712t1:c.*5787T= | NP_001195.2:n.*5787T= |
| ENST00000374574.2:c.*6031T= | ENSP00000363702.2:n.*6031T= |
| ENST00000374580.8:c.*5787T= | ENSP00000363708.4:n.*5787T= |
| XM_011511687.1:c.*5787T= | XP_011509989.1:n.*5787T= |