Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922802T>C , CM000676.2:g.102922802T>C | GRCh38 |
| NC_000014.8:g.103389139T>C , CM000676.1:g.103389139T>C | GRCh37 |
| NC_000014.7:g.102458892T>C | NCBI36 |
| NG_008276.2:g.5147T>C , LRG_642:g.5147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.43+71T>C MANE Select | ENSP00000299155.6:n.43+71T>C | |
| ENST00000299155.9:c.43+71T>C | ENSP00000299155.5:n.43+71T>C | |
| NM_030943.3:c.43+71T>C , LRG_642t1:c.43+71T>C | NP_112205.2:n.43+71T>C | |
| XM_011537202.1:c.-120+52T>C | XP_011535504.1:n.-120+52T>C | |
| XM_011537202.3:c.-120+52T>C | XP_011535504.1:n.-120+52T>C | |
| XM_024449714.1:c.139+71T>C | XP_024305482.1:n.139+71T>C | |
| NM_030943.4:c.43+71T>C MANE Select | NP_112205.2:n.43+71T>C |