dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23677119T>G , CM000685.2:g.23677119T>G | GRCh38 |
| NC_000023.10:g.23695236T>G , CM000685.1:g.23695236T>G | GRCh37 |
| NC_000023.9:g.23605157T>G | NCBI36 |
| NG_012563.1:g.14592T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379341.9:c.476+2013T>G MANE Select | ENSP00000368646.4:n.476+2013T>G | |
| ENST00000379341.8:c.476+2013T>G | ENSP00000368646.4:n.476+2013T>G | |
| ENST00000379349.5:c.434+2013T>G | ENSP00000368654.1:n.434+2013T>G | |
| ENST00000439422.1:c.108+2013T>G | ||
| ENST00000495599.1:n.588+2013T>G | ||
| NM_006406.1:c.476+2013T>G | NP_006397.1:n.476+2013T>G | |
| XM_005274438.1:c.434+2013T>G | XP_005274495.1:n.434+2013T>G | |
| NM_006406.2:c.476+2013T>G MANE Select | NP_006397.1:n.476+2013T>G |