Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94974919T>C , CM000672.2:g.94974919T>C | GRCh38 |
| NC_000010.10:g.96734676T>C , CM000672.1:g.96734676T>C | GRCh37 |
| NC_000010.9:g.96724666T>C | NCBI36 |
| NG_008385.1:g.41262T>C | |
| NG_008385.2:g.41762T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000771.4:c.961+2674T>C MANE Select | NP_000762.2:n.961+2674T>C |
| ENST00000260682.8:c.961+2674T>C MANE Select | ENSP00000260682.6:n.961+2674T>C |
| NM_000771.3:c.961+2674T>C | NP_000762.2:n.961+2674T>C |
| ENST00000260682.6:c.961+2674T>C | ENSP00000260682.6:n.961+2674T>C |
| ENST00000643112.1:c.820-6264T>C | ENSP00000496202.1:n.820-6264T>C |