Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123630396C>G , CM000674.2:g.123630396C>G | GRCh38 |
| NC_000012.11:g.124114943C>G , CM000674.1:g.124114943C>G | GRCh37 |
| NC_000012.10:g.122680896C>G | NCBI36 |
| NG_015862.1:g.8381G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001414.4:c.252+1G>C MANE Select | NP_001405.1:n.252+1G>C |
| ENST00000424014.7:c.252+1G>C MANE Select | ENSP00000416250.2:n.252+1G>C |
| NM_001414.3:c.252+1G>C | NP_001405.1:n.252+1G>C |
| ENST00000424014.6:c.252+1G>C | ENSP00000416250.2:n.252+1G>C |
| ENST00000452159.6:n.383+1G>C | |
| ENST00000534960.5:c.299+1G>C | |
| ENST00000537073.1:c.252+1G>C | ENSP00000444183.1:n.252+1G>C |
| ENST00000539951.5:c.213+1G>C | ENSP00000438060.1:n.213+1G>C |
| ENST00000543940.1:n.352+1G>C |