Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86578865T>G , CM000670.2:g.86578865T>G | GRCh38 |
| NC_000008.10:g.87591093T>G , CM000670.1:g.87591093T>G | GRCh37 |
| NC_000008.9:g.87660209T>G | NCBI36 |
| NG_016980.1:g.169811A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.1929-2A>C MANE Select | NP_061971.3:n.1929-2A>C |
| ENST00000320005.6:c.1929-2A>C MANE Select | ENSP00000316605.5:n.1929-2A>C |
| NM_019098.4:c.1929-2A>C | NP_061971.3:n.1929-2A>C |
| ENST00000320005.5:c.1929-2A>C | ENSP00000316605.5:n.1929-2A>C |
| ENST00000517327.5:c.102-2A>C | ENSP00000428329.1:n.102-2A>C |
| ENST00000681546.1:n.1749-2A>C | |
| ENST00000681746.1:c.*340-2A>C | ENSP00000505959.1:n.*340-2A>C |
| XM_011517138.1:c.1515-2A>C | XP_011515440.1:n.1515-2A>C |
| XM_011517138.2:c.1515-2A>C | XP_011515440.1:n.1515-2A>C |