Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117830351T>G , CM000670.2:g.117830351T>G | GRCh38 |
| NC_000008.10:g.118842590T>G , CM000670.1:g.118842590T>G | GRCh37 |
| NC_000008.9:g.118911771T>G | NCBI36 |
| NG_007455.2:g.286469A>C , LRG_493:g.286469A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1165-2A>C MANE Select | NP_000118.2:n.1165-2A>C |
| ENST00000378204.7:c.1165-2A>C MANE Select | ENSP00000367446.3:n.1165-2A>C |
| NM_000127.2:c.1165-2A>C , LRG_493t1:c.1165-2A>C | NP_000118.2:n.1165-2A>C |
| ENST00000378204.6:c.1165-2A>C | ENSP00000367446.2:n.1165-2A>C |
| ENST00000436216.1:c.588-2A>C | |
| ENST00000436216.2:c.588-2A>C | |
| ENST00000437196.1:c.*56-2A>C | ENSP00000407299.1:n.*56-2A>C |
| ENST00000684189.1:n.632-2A>C |