dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.96242330T>G , CM000676.2:g.96242330T>G | GRCh38 |
| NC_000014.8:g.96708667T>G , CM000676.1:g.96708667T>G | GRCh37 |
| NC_000014.7:g.95778420T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554311.2:c.*826T>G MANE Select | ENSP00000450482.1:n.*826T>G | |
| ENST00000542454.2:c.*826T>G | ENSP00000439459.2:n.*826T>G | |
| ENST00000553811.1:c.74+5149T>G | ENSP00000450984.1:n.74+5149T>G | |
| ENST00000554311.1:c.*826T>G | ENSP00000450482.1:n.*826T>G | |
| ENST00000555847.1:n.190T>G | ||
| NM_000623.3:c.*826T>G | NP_000614.1:n.*826T>G | |
| NM_000623.4:c.*826T>G | NP_000614.1:n.*826T>G | |
| NM_001379692.1:c.*826T>G MANE Select | NP_001366621.1:n.*826T>G |