Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68746371G= , CM000674.2:g.68746371G= | GRCh38 |
| NC_000012.11:g.69140151G= , CM000674.1:g.69140151G= | GRCh37 |
| NC_000012.10:g.67426418G= | NCBI36 |
| NG_046600.2:g.64421G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319429.7:n.237G= | ||
| ENST00000398004.4:c.-7G= MANE Select | ENSP00000381089.2:n.-7G= | |
| ENST00000673712.1:c.-7G= | ENSP00000501065.1:n.-7G= | |
| ENST00000674096.1:c.-7G= | ENSP00000501130.1:n.-7G= | |
| ENST00000398004.3:c.-7G= | ENSP00000381089.2:n.-7G= | |
| NM_018656.2:c.-7G= | NP_061126.2:n.-7G= | |
| XM_005269006.2:c.-7G= | XP_005269063.1:n.-7G= | |
| NM_001354997.1:c.-7G= | NP_001341926.1:n.-7G= | |
| NM_001354998.1:c.-7G= | NP_001341927.1:n.-7G= | |
| NM_018656.3:c.-7G= | NP_061126.2:n.-7G= | |
| NR_149143.1:n.286G= | ||
| NR_149144.1:n.286G= | ||
| NM_001354997.3:c.-7G= | NP_001341926.1:n.-7G= | |
| NM_001354998.2:c.-7G= | NP_001341927.1:n.-7G= | |
| NM_018656.5:c.-7G= MANE Select | NP_061126.2:n.-7G= | |
| NR_149143.3:n.196G= | ||
| NR_149144.3:n.196G= |