Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.157237812T>C , CM000667.2:g.157237812T>C | GRCh38 |
| NC_000005.9:g.156664822T>C , CM000667.1:g.156664822T>C | GRCh37 |
| NC_000005.8:g.156597400T>C | NCBI36 |
| NG_016276.1:g.61916T>C , LRG_189:g.61916T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696962.1:c.769-297T>C | ENSP00000513001.1:n.769-297T>C | |
| ENST00000422843.8:c.769-297T>C MANE Select | ENSP00000398655.4:n.769-297T>C | |
| ENST00000422843.7:c.769-297T>C | ENSP00000398655.3:n.769-297T>C | |
| ENST00000519402.5:n.904-297T>C | ||
| ENST00000519759.1:n.388-297T>C | ||
| NM_005546.3:c.769-297T>C , LRG_189t1:c.769-297T>C | NP_005537.3:n.769-297T>C | |
| XM_017009443.1:c.394-297T>C | XP_016864932.1:n.394-297T>C | |
| NM_005546.4:c.769-297T>C MANE Select | NP_005537.3:n.769-297T>C |