Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859111C>A , CM000664.2:g.135859111C>A | GRCh38 |
| NC_000002.11:g.136616681C>A , CM000664.1:g.136616681C>A | GRCh37 |
| NC_000002.10:g.136333151C>A | NCBI36 |
| NG_008104.2:g.1059G>T , LRG_338:g.1059G>T | |
| NG_008958.1:g.22331G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1362+190G>T MANE Select | ENSP00000264156.2:n.1362+190G>T | |
| ENST00000264156.2:c.1362+190G>T | ENSP00000264156.2:n.1362+190G>T | |
| ENST00000492091.1:n.181+3496G>T | ||
| NM_005915.5:c.1362+190G>T | NP_005906.2:n.1362+190G>T | |
| NM_005915.6:c.1362+190G>T MANE Select | NP_005906.2:n.1362+190G>T |