Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44210148A>G , CM000666.2:g.44210148A>G | GRCh38 |
| NC_000004.11:g.44212165A>G , CM000666.1:g.44212165A>G | GRCh37 |
| NC_000004.10:g.43906922A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198353.3:c.962-34898T>C MANE Select | NP_938167.1:n.962-34898T>C |
| ENST00000360029.4:c.962-34898T>C MANE Select | ENSP00000353129.3:n.962-34898T>C |
| NM_198353.2:c.962-34898T>C | NP_938167.1:n.962-34898T>C |
| ENST00000360029.3:c.962-34898T>C | ENSP00000353129.3:n.962-34898T>C |
| ENST00000515268.1:c.169-34898T>C | |
| XM_011513689.1:c.1079-34898T>C | XP_011511991.1:n.1079-34898T>C |
| XM_011513690.1:c.1046-34898T>C | XP_011511992.1:n.1046-34898T>C |
| XM_011513690.3:c.1046-34898T>C | XP_011511992.1:n.1046-34898T>C |