Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19353062T>G , CM000664.2:g.19353062T>G | GRCh38 |
| NC_000002.11:g.19552823T>G , CM000664.1:g.19552823T>G | GRCh37 |
| NC_000002.10:g.19416304T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272223.3:c.665+79A>C MANE Select | ENSP00000272223.2:n.665+79A>C | |
| ENST00000272223.2:c.665+79A>C | ENSP00000272223.2:n.665+79A>C | |
| ENST00000487581.1:n.3772+79A>C | ||
| NM_145260.2:c.665+79A>C | NP_660303.1:n.665+79A>C | |
| XM_006711942.2:c.665+79A>C | XP_006712005.1:n.665+79A>C | |
| XM_006711942.4:c.665+79A>C | XP_006712005.1:n.665+79A>C | |
| NM_145260.3:c.665+79A>C MANE Select | NP_660303.1:n.665+79A>C |