Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16287961G>C , CM000668.2:g.16287961G>C | GRCh38 |
| NC_000006.11:g.16288192G>C , CM000668.1:g.16288192G>C | GRCh37 |
| NC_000006.10:g.16396171G>C | NCBI36 |
| NG_013303.1:g.54382G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006877.4:c.697+2126G>C MANE Select | NP_006868.3:n.697+2126G>C |
| ENST00000259727.5:c.697+2126G>C MANE Select | ENSP00000259727.4:n.697+2126G>C |
| NM_006877.3:c.697+2126G>C | NP_006868.3:n.697+2126G>C |
| ENST00000259727.4:c.697+2126G>C | ENSP00000259727.4:n.697+2126G>C |
| ENST00000543191.5:n.192+2126G>C | |
| XM_011514508.1:c.698-1465G>C | XP_011512810.1:n.698-1465G>C |
| XM_011514508.2:c.698-1465G>C | XP_011512810.1:n.698-1465G>C |