Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154984804C>T , CM000685.2:g.154984804C>T | GRCh38 |
| NC_000023.10:g.154213079C>T , CM000685.1:g.154213079C>T | GRCh37 |
| NC_000023.9:g.153866273C>T | NCBI36 |
| NG_011403.1:g.42920G>A | |
| NG_011403.2:g.42920G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.671-1G>A MANE Select | NP_000123.1:n.671-1G>A |
| ENST00000360256.9:c.671-1G>A MANE Select | ENSP00000353393.4:n.671-1G>A |
| NM_000132.3:c.671-1G>A | NP_000123.1:n.671-1G>A |
| ENST00000360256.8:c.671-1G>A | ENSP00000353393.4:n.671-1G>A |
| ENST00000423959.5:c.566-1G>A | ENSP00000409446.1:n.566-1G>A |
| ENST00000647125.1:c.*457-1G>A | ENSP00000496062.1:n.*457-1G>A |
| XM_011531126.1:c.566-1G>A | XP_011529428.1:n.566-1G>A |