Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.39706114T>C , CM000669.2:g.39706114T>C | GRCh38 |
| NC_000007.13:g.39745713T>C , CM000669.1:g.39745713T>C | GRCh37 |
| NC_000007.12:g.39712238T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005257.7:c.499-9T>C MANE Select | ENSP00000005257.2:n.499-9T>C | |
| ENST00000005257.6:c.499-9T>C | ENSP00000005257.2:n.499-9T>C | |
| ENST00000434466.1:c.583-9T>C | ||
| ENST00000466491.1:n.141-9T>C | ||
| ENST00000468201.1:n.437-9T>C | ||
| NM_005402.3:c.499-9T>C | NP_005393.2:n.499-9T>C | |
| XM_006715762.2:c.499-9T>C | XP_006715825.1:n.499-9T>C | |
| XM_011515466.1:c.499-9T>C | XP_011513768.1:n.499-9T>C | |
| XM_006715762.3:c.499-9T>C | XP_006715825.1:n.499-9T>C | |
| NM_005402.4:c.499-9T>C MANE Select | NP_005393.2:n.499-9T>C |