Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186679688T>G , CM000663.2:g.186679688T>G | GRCh38 |
| NC_000001.10:g.186648820T>G , CM000663.1:g.186648820T>G | GRCh37 |
| NC_000001.9:g.184915443T>G | NCBI36 |
| NG_028206.2:g.5740A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367468.10:c.53-250A>C MANE Select | ENSP00000356438.5:n.53-250A>C | |
| ENST00000680451.1:c.53-250A>C | ENSP00000506242.1:n.53-250A>C | |
| ENST00000681605.1:c.53-250A>C | ENSP00000504900.1:n.53-250A>C | |
| ENST00000367468.9:c.53-250A>C | ENSP00000356438.5:n.53-250A>C | |
| ENST00000490885.6:n.186-250A>C | ||
| ENST00000559627.1:c.53-250A>C | ENSP00000454130.1:n.53-250A>C | |
| ENST00000559800.1:n.186-250A>C | ||
| NM_000963.3:c.53-250A>C | NP_000954.1:n.53-250A>C | |
| NM_000963.4:c.53-250A>C MANE Select | NP_000954.1:n.53-250A>C |