Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107787518A>G , CM000669.2:g.107787518A>G | GRCh38 |
| NC_000007.13:g.107427963A>G , CM000669.1:g.107427963A>G | GRCh37 |
| NC_000007.12:g.107215199A>G | NCBI36 |
| NG_008046.1:g.20716T>C , LRG_683:g.20716T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000111.3:c.736-9T>C MANE Select | NP_000102.1:n.736-9T>C |
| ENST00000340010.10:c.736-9T>C MANE Select | ENSP00000345873.5:n.736-9T>C |
| NM_000111.2:c.736-9T>C , LRG_683t1:c.736-9T>C | NP_000102.1:n.736-9T>C |
| ENST00000340010.9:c.736-9T>C | ENSP00000345873.5:n.736-9T>C |
| ENST00000379083.7:c.*527-9T>C | ENSP00000368375.3:n.*527-9T>C |
| ENST00000468551.1:n.5T>C | |
| XM_011515867.1:c.736-9T>C | XP_011514169.1:n.736-9T>C |