Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689392A>C , CM000667.2:g.74689392A>C | GRCh38 |
| NC_000005.9:g.73985217A>C , CM000667.1:g.73985217A>C | GRCh37 |
| NC_000005.8:g.74020973A>C | NCBI36 |
| NG_009770.1:g.9249A>C | |
| NG_009770.2:g.54370A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.364A>C MANE Select | ENSP00000261416.7:p.Thr122Pro | |
| ENST00000261416.11:c.364A>C | ENSP00000261416.7:p.Thr122Pro | |
| ENST00000511181.5:c.-312A>C | ENSP00000426285.1:n.-312A>C | |
| ENST00000513079.5:n.429A>C | ||
| ENST00000515528.1:n.419A>C | ||
| NM_000521.3:c.364A>C | NP_000512.1:p.Thr122Pro | |
| NM_001292004.1:c.-312A>C | NP_001278933.1:n.-312A>C | |
| NM_000521.4:c.364A>C MANE Select | NP_000512.2:p.Thr122Pro | |
| NM_001292004.2:c.-312A>C | NP_001278933.1:n.-312A>C |