Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859716A>G , CM000668.2:g.31859716A>G | GRCh38 |
| NC_000006.11:g.31827493A>G , CM000668.1:g.31827493A>G | GRCh37 |
| NC_000006.10:g.31935472A>G | NCBI36 |
| NG_008201.1:g.8217T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*3T>C MANE Select | ENSP00000364782.4:n.*3T>C | |
| ENST00000677054.1:n.2590T>C | ||
| ENST00000677512.1:n.1528T>C | ||
| ENST00000678869.1:n.1839T>C | ||
| ENST00000375631.4:c.*3T>C | ENSP00000364782.4:n.*3T>C | |
| ENST00000480384.1:n.1550T>C | ||
| ENST00000491768.5:c.*361T>C | ENSP00000433127.1:n.*361T>C | |
| ENST00000495807.1:n.2559T>C | ||
| NM_000434.3:c.*3T>C | NP_000425.1:n.*3T>C | |
| NM_000434.4:c.*3T>C MANE Select | NP_000425.1:n.*3T>C |