Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147044019T>C , CM000669.2:g.147044019T>C | GRCh38 |
| NC_000007.13:g.146741111T>C , CM000669.1:g.146741111T>C | GRCh37 |
| NC_000007.12:g.146372044T>C | NCBI36 |
| NG_007092.2:g.932659T>C | |
| NG_007092.3:g.933019T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.515T>C MANE Select | ENSP00000354778.3:p.Ile172Thr | |
| ENST00000636561.1:n.418T>C | ||
| ENST00000636870.1:n.377T>C | ||
| ENST00000637150.1:n.444T>C | ||
| ENST00000637555.1:n.173T>C | ||
| ENST00000637694.1:n.418T>C | ||
| ENST00000638117.1:n.418T>C | ||
| ENST00000361727.7:c.515T>C | ENSP00000354778.3:p.Ile172Thr | |
| NM_014141.5:c.515T>C | NP_054860.1:p.Ile172Thr | |
| XM_017011950.2:c.515T>C | XP_016867439.1:p.Ile172Thr | |
| NM_014141.6:c.515T>C MANE Select | NP_054860.1:p.Ile172Thr |