Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49639928C>T , CM000681.2:g.49639928C>T | GRCh38 |
| NC_000019.9:g.50143185C>T , CM000681.1:g.50143185C>T | GRCh37 |
| NC_000019.8:g.54834997C>T | NCBI36 |
| NG_042222.1:g.5216G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006270.5:c.153+18G>A MANE Select | NP_006261.1:n.153+18G>A |
| ENST00000246792.4:c.153+18G>A MANE Select | ENSP00000246792.2:n.153+18G>A |
| NM_006270.3:c.153+18G>A | NP_006261.1:n.153+18G>A |
| NM_006270.4:c.153+18G>A | NP_006261.1:n.153+18G>A |
| ENST00000246792.3:c.153+18G>A | ENSP00000246792.2:n.153+18G>A |
| ENST00000601532.1:n.177+18G>A |