Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498248T>G , CM000680.2:g.31498248T>G | GRCh38 |
| NC_000018.9:g.29078211T>G , CM000680.1:g.29078211T>G | GRCh37 |
| NC_000018.8:g.27332209T>G | NCBI36 |
| NG_007072.3:g.5007T>G , LRG_397:g.5007T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682241.2:c.-4T>G | ENSP00000507600.2:n.-4T>G | |
| ENST00000683654.1:c.-4T>G | ENSP00000506971.1:n.-4T>G | |
| ENST00000261590.13:c.-4T>G MANE Select | ENSP00000261590.8:n.-4T>G | |
| ENST00000261590.12:c.-4T>G | ENSP00000261590.8:n.-4T>G | |
| ENST00000585206.1:c.-4T>G | ENSP00000462503.1:n.-4T>G | |
| NM_001943.3:c.-4T>G , LRG_397t1:c.-4T>G | NP_001934.2:n.-4T>G | |
| NM_001943.4:c.-4T>G | NP_001934.2:n.-4T>G | |
| NM_001943.5:c.-4T>G MANE Select | NP_001934.2:n.-4T>G |