dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135749357A>G , CM000664.2:g.135749357A>G | GRCh38 |
| NC_000002.11:g.136506927A>G , CM000664.1:g.136506927A>G | GRCh37 |
| NC_000002.10:g.136223397A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272638.14:c.185+988A>G MANE Select | ENSP00000272638.9:n.185+988A>G | |
| ENST00000272638.13:c.185+988A>G | ENSP00000272638.9:n.185+988A>G | |
| ENST00000415164.5:c.293+988A>G | ENSP00000401748.1:n.293+988A>G | |
| ENST00000416538.5:c.185+988A>G | ENSP00000391586.1:n.185+988A>G | |
| ENST00000426921.5:c.185+988A>G | ENSP00000410516.1:n.185+988A>G | |
| ENST00000470687.1:n.259+988A>G | ||
| NM_014607.3:c.185+988A>G | NP_055422.1:n.185+988A>G | |
| NM_014607.4:c.185+988A>G MANE Select | NP_055422.1:n.185+988A>G |