Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48373494T>C , CM000675.2:g.48373494T>C | GRCh38 |
| NC_000013.10:g.48947630T>C , CM000675.1:g.48947630T>C | GRCh37 |
| NC_000013.9:g.47845631T>C | NCBI36 |
| NG_009009.1:g.74748T>C , LRG_517:g.74748T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1215+2T>C MANE Select | ENSP00000267163.4:n.1215+2T>C | |
| ENST00000650461.1:c.1215+2T>C | ENSP00000497193.1:n.1215+2T>C | |
| ENST00000267163.4:c.1215+2T>C | ENSP00000267163.4:n.1215+2T>C | |
| NM_000321.2:c.1215+2T>C , LRG_517t1:c.1215+2T>C | NP_000312.2:n.1215+2T>C | |
| XM_011535171.1:c.954+2T>C | XP_011533473.1:n.954+2T>C | |
| XM_011535171.2:c.954+2T>C | XP_011533473.1:n.954+2T>C | |
| XR_002957522.1:n.121+666A>G | ||
| NM_000321.3:c.1215+2T>C MANE Select | NP_000312.2:n.1215+2T>C |