Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48348958T>C , CM000675.2:g.48348958T>C | GRCh38 |
| NC_000013.10:g.48923094T>C , CM000675.1:g.48923094T>C | GRCh37 |
| NC_000013.9:g.47821095T>C | NCBI36 |
| NG_009009.1:g.50212T>C , LRG_517:g.50212T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.542T>C MANE Select | ENSP00000267163.4:p.Ile181Thr | |
| ENST00000650461.1:c.542T>C | ENSP00000497193.1:p.Ile181Thr | |
| ENST00000267163.4:c.542T>C | ENSP00000267163.4:p.Ile181Thr | |
| ENST00000467505.5:c.138-11059T>C | ENSP00000434702.1:n.138-11059T>C | |
| ENST00000525036.1:n.704T>C | ||
| NM_000321.2:c.542T>C , LRG_517t1:c.542T>C | NP_000312.2:p.Ile181Thr | |
| XM_011535171.1:c.281T>C | XP_011533473.1:p.Ile94Thr | |
| XM_011535171.2:c.281T>C | XP_011533473.1:p.Ile94Thr | |
| NM_000321.3:c.542T>C MANE Select | NP_000312.2:p.Ile181Thr |