Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23445046A>G , CM000678.2:g.23445046A>G | GRCh38 |
| NC_000016.9:g.23456367A>G , CM000678.1:g.23456367A>G | GRCh37 |
| NC_000016.8:g.23363868A>G | NCBI36 |
| NG_021287.1:g.13146T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.435+2T>C MANE Select | NP_705831.1:n.435+2T>C |
| ENST00000307149.10:c.435+2T>C MANE Select | ENSP00000305442.5:n.435+2T>C |
| NM_153603.3:c.435+2T>C | NP_705831.1:n.435+2T>C |
| ENST00000307149.9:c.435+2T>C | ENSP00000305442.5:n.435+2T>C |
| XM_017023870.1:c.240+2T>C | XP_016879359.1:n.240+2T>C |
| XR_002957852.1:n.656+2T>C | |
| XR_429680.1:n.651+2T>C | |
| XR_429680.2:n.656+2T>C |