Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031059A>G , CM000667.2:g.135031059A>G | GRCh38 |
| NC_000005.9:g.134366749A>G , CM000667.1:g.134366749A>G | GRCh37 |
| NC_000005.8:g.134394648A>G | NCBI36 |
| NG_012114.1:g.8216T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.402+217T>C MANE Select | ENSP00000265340.6:n.402+217T>C | |
| ENST00000265340.11:c.402+217T>C | ENSP00000265340.6:n.402+217T>C | |
| ENST00000503586.1:c.524+217T>C | ||
| ENST00000504936.1:n.735+217T>C | ||
| ENST00000506438.5:c.402+217T>C | ENSP00000427542.1:n.402+217T>C | |
| NM_002653.4:c.402+217T>C | NP_002644.4:n.402+217T>C | |
| NM_002653.5:c.402+217T>C MANE Select | NP_002644.4:n.402+217T>C |