Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21031282A>G , CM000680.2:g.21031282A>G | GRCh38 |
| NC_000018.9:g.18611243A>G , CM000680.1:g.18611243A>G | GRCh37 |
| NC_000018.8:g.16865241A>G | NCBI36 |
| NG_042178.2:g.85570T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005406.3:c.1052-2347T>C MANE Select | NP_005397.1:n.1052-2347T>C |
| ENST00000399799.3:c.1052-2347T>C MANE Select | ENSP00000382697.1:n.1052-2347T>C |
| NM_005406.2:c.1052-2347T>C | NP_005397.1:n.1052-2347T>C |
| ENST00000399799.2:c.1052-2347T>C | ENSP00000382697.1:n.1052-2347T>C |
| ENST00000635540.1:c.1052-2347T>C | ENSP00000489185.1:n.1052-2347T>C |
| ENST00000635540.2:c.1052-2347T>C | ENSP00000489185.1:n.1052-2347T>C |
| XM_011526136.1:c.1052-2347T>C | XP_011524438.1:n.1052-2347T>C |