dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46601742T>G , CM000683.2:g.46601742T>G | GRCh38 |
| NC_000021.8:g.48021655T>G , CM000683.1:g.48021655T>G | GRCh37 |
| NC_000021.7:g.46846083T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291700.9:c.138+536A>C MANE Select | ENSP00000291700.4:n.138+536A>C | |
| ENST00000291700.8:c.138+536A>C | ENSP00000291700.4:n.138+536A>C | |
| ENST00000367071.4:c.138+536A>C | ENSP00000356038.4:n.138+536A>C | |
| ENST00000397648.1:c.138+536A>C | ENSP00000380769.1:n.138+536A>C | |
| NM_006272.2:c.138+536A>C | NP_006263.1:n.138+536A>C | |
| XM_017028424.2:c.138+536A>C | XP_016883913.1:n.138+536A>C | |
| NM_006272.3:c.138+536A>C MANE Select | NP_006263.1:n.138+536A>C |