Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.77256371T>C , CM000680.2:g.77256371T>C | GRCh38 |
| NC_000018.9:g.74968327T>C , CM000680.1:g.74968327T>C | GRCh37 |
| NC_000018.8:g.73097315T>C | NCBI36 |
| NG_009223.1:g.11320T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001480.4:c.732+148T>C MANE Select | NP_001471.2:n.732+148T>C |
| ENST00000299727.5:c.732+148T>C MANE Select | ENSP00000299727.3:n.732+148T>C |
| NM_001480.3:c.732+148T>C | NP_001471.2:n.732+148T>C |
| ENST00000299727.4:c.732+148T>C | ENSP00000299727.3:n.732+148T>C |
| XM_017025691.1:c.732+148T>C | XP_016881180.1:n.732+148T>C |