Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.17592745A>G , CM000684.2:g.17592745A>G | GRCh38 |
| NC_000022.10:g.18075511A>G , CM000684.1:g.18075511A>G | GRCh37 |
| NC_000022.9:g.16455511A>G | NCBI36 |
| NG_009214.1:g.41078T>C | |
| NG_009214.2:g.41078T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001696.4:c.619-9T>C MANE Select | NP_001687.1:n.619-9T>C |
| ENST00000253413.10:c.619-9T>C MANE Select | ENSP00000253413.5:n.619-9T>C |
| NM_001039366.1:c.553-9T>C | NP_001034455.1:n.553-9T>C |
| NM_001039367.1:c.529-9T>C | NP_001034456.1:n.529-9T>C |
| NM_001696.3:c.619-9T>C | NP_001687.1:n.619-9T>C |
| ENST00000253413.9:c.619-9T>C | ENSP00000253413.5:n.619-9T>C |
| ENST00000399796.6:c.529-9T>C | ENSP00000382694.2:n.529-9T>C |
| ENST00000399798.6:c.553-9T>C | ENSP00000382696.2:n.553-9T>C |
| ENST00000473248.1:n.765-9T>C |