Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117804721C>G , CM000670.2:g.117804721C>G | GRCh38 |
| NC_000008.10:g.118816960C>G , CM000670.1:g.118816960C>G | GRCh37 |
| NC_000008.9:g.118886141C>G | NCBI36 |
| NG_007455.2:g.312099G>C , LRG_493:g.312099G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.2055+1G>C MANE Select | NP_000118.2:n.2055+1G>C |
| ENST00000378204.7:c.2055+1G>C MANE Select | ENSP00000367446.3:n.2055+1G>C |
| NM_000127.2:c.2055+1G>C , LRG_493t1:c.2055+1G>C | NP_000118.2:n.2055+1G>C |
| ENST00000378204.6:c.2055+1G>C | ENSP00000367446.2:n.2055+1G>C |
| ENST00000437196.1:c.*946+1G>C | ENSP00000407299.1:n.*946+1G>C |
| ENST00000684189.1:n.1522+1G>C | |
| ENST00000684443.1:n.2181+1G>C |