Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877130G>T , CM000664.2:g.240877130G>T | GRCh38 |
| NC_000002.11:g.241816547G>T , CM000664.1:g.241816547G>T | GRCh37 |
| NC_000002.10:g.241465220G>T | NCBI36 |
| NG_008005.1:g.13386G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.847-407G>T MANE Select | ENSP00000302620.3:n.847-407G>T | |
| ENST00000307503.3:c.847-407G>T | ENSP00000302620.3:n.847-407G>T | |
| ENST00000470255.1:n.218G>T | ||
| NM_000030.2:c.847-407G>T | NP_000021.1:n.847-407G>T | |
| NM_000030.3:c.847-407G>T MANE Select | NP_000021.1:n.847-407G>T |