Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52567186A>G , CM000674.2:g.52567186A>G | GRCh38 |
| NC_000012.11:g.52960970A>G , CM000674.1:g.52960970A>G | GRCh37 |
| NC_000012.10:g.51247237A>G | NCBI36 |
| NG_012321.1:g.11640T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_175053.4:c.1391-18T>C MANE Select | NP_778223.2:n.1391-18T>C |
| ENST00000305620.3:c.1391-18T>C MANE Select | ENSP00000307240.2:n.1391-18T>C |
| NM_175053.3:c.1391-18T>C | NP_778223.2:n.1391-18T>C |
| ENST00000305620.2:c.1391-18T>C | ENSP00000307240.2:n.1391-18T>C |
| ENST00000546384.1:n.378-18T>C | |
| ENST00000549343.5:c.1433-18T>C | ENSP00000447447.1:n.1433-18T>C |
| XM_011537902.1:c.1391-18T>C | XP_011536204.1:n.1391-18T>C |