Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48368522T>C , CM000675.2:g.48368522T>C | GRCh38 |
| NC_000013.10:g.48942658T>C , CM000675.1:g.48942658T>C | GRCh37 |
| NC_000013.9:g.47840659T>C | NCBI36 |
| NG_009009.1:g.69776T>C , LRG_517:g.69776T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1050-5T>C MANE Select | NP_000312.2:n.1050-5T>C |
| ENST00000267163.6:c.1050-5T>C MANE Select | ENSP00000267163.4:n.1050-5T>C |
| NM_000321.2:c.1050-5T>C , LRG_517t1:c.1050-5T>C | NP_000312.2:n.1050-5T>C |
| ENST00000267163.4:c.1050-5T>C | ENSP00000267163.4:n.1050-5T>C |
| ENST00000650461.1:c.1050-5T>C | ENSP00000497193.1:n.1050-5T>C |
| XM_011535171.1:c.789-5T>C | XP_011533473.1:n.789-5T>C |
| XM_011535171.2:c.789-5T>C | XP_011533473.1:n.789-5T>C |
| XR_002957522.1:n.122-3546A>G |