COSMIC:
COSM4116807 (not active)
COSM4116808 (not active)
MutSpliceDB:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672439T>G , CM000665.2:g.30672439T>G | GRCh38 |
| NC_000003.11:g.30713931T>G , CM000665.1:g.30713931T>G | GRCh37 |
| NC_000003.10:g.30688935T>G | NCBI36 |
| NG_007490.1:g.70938T>G , LRG_779:g.70938T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1254+2T>G MANE Select | ENSP00000295754.5:n.1254+2T>G | |
| ENST00000672866.1:n.2850+2T>G | ||
| ENST00000295754.9:c.1254+2T>G | ENSP00000295754.5:n.1254+2T>G | |
| ENST00000359013.4:c.1329+2T>G | ENSP00000351905.4:n.1329+2T>G | |
| NM_001024847.2:c.1329+2T>G , LRG_779t1:c.1329+2T>G | NP_001020018.1:n.1329+2T>G | |
| NM_003242.5:c.1254+2T>G | NP_003233.4:n.1254+2T>G | |
| XM_011534043.1:c.1281+2T>G | XP_011532345.1:n.1281+2T>G | |
| XM_011534044.1:c.1206+2T>G | XP_011532346.1:n.1206+2T>G | |
| XM_011534045.1:c.1149+2T>G | XP_011532347.1:n.1149+2T>G | |
| XM_011534043.2:c.1281+2T>G | XP_011532345.1:n.1281+2T>G | |
| XM_011534045.3:c.1149+2T>G | XP_011532347.1:n.1149+2T>G | |
| XM_017007106.1:c.1149+2T>G | XP_016862595.1:n.1149+2T>G | |
| NM_003242.6:c.1254+2T>G MANE Select | NP_003233.4:n.1254+2T>G |