Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169280348A>C , CM000664.2:g.169280348A>C | GRCh38 |
| NC_000002.11:g.170136858A>C , CM000664.1:g.170136858A>C | GRCh37 |
| NC_000002.10:g.169845104A>C | NCBI36 |
| NG_012634.1:g.87265T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.1341+2T>G MANE Select | ENSP00000496870.1:n.1341+2T>G | |
| ENST00000263816.7:c.1341+2T>G | ENSP00000263816.3:n.1341+2T>G | |
| ENST00000443831.1:c.1341+2T>G | ENSP00000409813.1:n.1341+2T>G | |
| NM_004525.2:c.1341+2T>G | NP_004516.2:n.1341+2T>G | |
| XM_011511183.1:c.1341+2T>G | XP_011509485.1:n.1341+2T>G | |
| XM_011511185.1:c.1341+2T>G | XP_011509487.1:n.1341+2T>G | |
| NM_004525.3:c.1341+2T>G MANE Select | NP_004516.2:n.1341+2T>G | |
| XM_011511183.3:c.1341+2T>G | XP_011509485.1:n.1341+2T>G |