Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48453113T>G , CM000675.2:g.48453113T>G | GRCh38 |
| NC_000013.10:g.49027249T>G , CM000675.1:g.49027249T>G | GRCh37 |
| NC_000013.9:g.47925250T>G | NCBI36 |
| NG_009009.1:g.154367T>G , LRG_517:g.154367T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1814+2T>G MANE Select | NP_000312.2:n.1814+2T>G |
| ENST00000267163.6:c.1814+2T>G MANE Select | ENSP00000267163.4:n.1814+2T>G |
| NM_000321.2:c.1814+2T>G , LRG_517t1:c.1814+2T>G | NP_000312.2:n.1814+2T>G |
| ENST00000267163.4:c.1814+2T>G | ENSP00000267163.4:n.1814+2T>G |
| ENST00000480491.1:n.513+2T>G | |
| ENST00000643064.1:c.194+71670T>G | |
| ENST00000650461.1:c.1814+2T>G | ENSP00000497193.1:n.1814+2T>G |
| XM_011535171.1:c.1553+2T>G | XP_011533473.1:n.1553+2T>G |
| XM_011535171.2:c.1553+2T>G | XP_011533473.1:n.1553+2T>G |