Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6151719C>T , CM000668.2:g.6151719C>T | GRCh38 |
| NC_000006.11:g.6151952C>T , CM000668.1:g.6151952C>T | GRCh37 |
| NC_000006.10:g.6096951C>T | NCBI36 |
| NG_008107.1:g.173973G>A , LRG_549:g.173973G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000129.4:c.2045+94G>A MANE Select | NP_000120.2:n.2045+94G>A |
| ENST00000264870.8:c.2045+94G>A MANE Select | ENSP00000264870.3:n.2045+94G>A |
| NM_000129.3:c.2045+94G>A , LRG_549t1:c.2045+94G>A | NP_000120.2:n.2045+94G>A |
| ENST00000264870.7:c.2045+94G>A | ENSP00000264870.3:n.2045+94G>A |
| XM_006715010.2:c.2045+94G>A | XP_006715073.1:n.2045+94G>A |
| XM_011514342.1:c.2207+94G>A | XP_011512644.1:n.2207+94G>A |