dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17328461G>T , CM000669.2:g.17328461G>T | GRCh38 |
| NC_000007.13:g.17368085G>T , CM000669.1:g.17368085G>T | GRCh37 |
| NC_000007.12:g.17334610G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242057.9:c.450+613G>T MANE Select | ENSP00000242057.4:n.450+613G>T | |
| ENST00000637807.1:c.420+613G>T | ENSP00000490530.1:n.420+613G>T | |
| ENST00000642825.1:c.405+613G>T | ENSP00000495987.1:n.405+613G>T | |
| ENST00000242057.8:c.450+613G>T | ENSP00000242057.4:n.450+613G>T | |
| ENST00000463496.1:c.450+613G>T | ENSP00000436466.1:n.450+613G>T | |
| NM_001621.4:c.450+613G>T | NP_001612.1:n.450+613G>T | |
| NM_001621.5:c.450+613G>T MANE Select | NP_001612.1:n.450+613G>T |