Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31538986T>C , CM000680.2:g.31538986T>C | GRCh38 |
| NC_000018.9:g.29118949T>C , CM000680.1:g.29118949T>C | GRCh37 |
| NC_000018.8:g.27372947T>C | NCBI36 |
| NG_007072.3:g.45745T>C , LRG_397:g.45745T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.1879+8T>C MANE Select | ENSP00000261590.8:n.1879+8T>C | |
| ENST00000261590.12:c.1879+8T>C | ENSP00000261590.8:n.1879+8T>C | |
| NM_001943.3:c.1879+8T>C , LRG_397t1:c.1879+8T>C | NP_001934.2:n.1879+8T>C | |
| NM_001943.4:c.1879+8T>C | NP_001934.2:n.1879+8T>C | |
| XM_024451095.1:c.1345+8T>C | XP_024306863.1:n.1345+8T>C | |
| NM_001943.5:c.1879+8T>C MANE Select | NP_001934.2:n.1879+8T>C |