Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240877581T>C , CM000664.2:g.240877581T>C | GRCh38 |
| NC_000002.11:g.241816998T>C , CM000664.1:g.241816998T>C | GRCh37 |
| NC_000002.10:g.241465671T>C | NCBI36 |
| NG_008005.1:g.13837T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.891T>C MANE Select | ENSP00000302620.3:p.Tyr297= | |
| ENST00000307503.3:c.891T>C | ENSP00000302620.3:p.Tyr297= | |
| ENST00000470255.1:n.669T>C | ||
| NM_000030.2:c.891T>C | NP_000021.1:p.Tyr297= | |
| NM_000030.3:c.891T>C MANE Select | NP_000021.1:p.Tyr297= |