Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349004T>C , CM000663.2:g.43349004T>C | GRCh38 |
| NC_000001.10:g.43814675T>C , CM000663.1:g.43814675T>C | GRCh37 |
| NC_000001.9:g.43587262T>C | NCBI36 |
| NG_007525.1:g.16201T>C , LRG_510:g.16201T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1468+2T>C MANE Select | ENSP00000361548.3:n.1468+2T>C | |
| ENST00000413998.7:c.1447+2T>C | ENSP00000414004.3:n.1447+2T>C | |
| ENST00000638732.1:n.1468+2T>C | ||
| ENST00000372470.7:c.1468+2T>C | ENSP00000361548.3:n.1468+2T>C | |
| ENST00000413998.6:c.1468+2T>C | ENSP00000414004.2:n.1468+2T>C | |
| ENST00000612993.1:c.1468+2T>C | ENSP00000480273.1:n.1468+2T>C | |
| NM_005373.2:c.1468+2T>C , LRG_510t1:c.1468+2T>C | NP_005364.1:n.1468+2T>C | |
| XM_011541478.1:c.1447+2T>C | XP_011539780.1:n.1447+2T>C | |
| XM_017001320.1:c.1639+2T>C | XP_016856809.1:n.1639+2T>C | |
| NM_005373.3:c.1468+2T>C MANE Select | NP_005364.1:n.1468+2T>C |