dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68422693A>C , CM000677.2:g.68422693A>C | GRCh38 |
| NC_000015.9:g.68715032A>C , CM000677.1:g.68715032A>C | GRCh37 |
| NC_000015.8:g.66502086A>C | NCBI36 |
| NG_046911.1:g.14468T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.52+9322T>G MANE Select | ENSP00000327290.7:n.52+9322T>G | |
| ENST00000315757.8:c.52+9322T>G | ENSP00000327290.7:n.52+9322T>G | |
| ENST00000423218.6:c.52+9322T>G | ENSP00000403392.2:n.52+9322T>G | |
| NM_001004439.1:c.52+9322T>G | NP_001004439.1:n.52+9322T>G | |
| XM_011521363.1:c.52+9322T>G | XP_011519665.1:n.52+9322T>G | |
| XM_011521363.2:c.52+9322T>G | XP_011519665.1:n.52+9322T>G | |
| NM_001004439.2:c.52+9322T>G MANE Select | NP_001004439.1:n.52+9322T>G |