Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43352305T>C , CM000663.2:g.43352305T>C | GRCh38 |
| NC_000001.10:g.43817976T>C , CM000663.1:g.43817976T>C | GRCh37 |
| NC_000001.9:g.43590563T>C | NCBI36 |
| NG_007525.1:g.19502T>C , LRG_510:g.19502T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005373.3:c.1653+2T>C MANE Select | NP_005364.1:n.1653+2T>C |
| ENST00000372470.9:c.1653+2T>C MANE Select | ENSP00000361548.3:n.1653+2T>C |
| NM_005373.2:c.1653+2T>C , LRG_510t1:c.1653+2T>C | NP_005364.1:n.1653+2T>C |
| ENST00000372470.7:c.1653+2T>C | ENSP00000361548.3:n.1653+2T>C |
| ENST00000413998.7:c.1632+2T>C | ENSP00000414004.3:n.1632+2T>C |
| ENST00000643351.1:c.311+2T>C | |
| XM_011541478.1:c.1632+2T>C | XP_011539780.1:n.1632+2T>C |
| XM_017001320.1:c.1824+2T>C | XP_016856809.1:n.1824+2T>C |