Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859715C>T , CM000668.2:g.31859715C>T | GRCh38 |
| NC_000006.11:g.31827492C>T , CM000668.1:g.31827492C>T | GRCh37 |
| NC_000006.10:g.31935471C>T | NCBI36 |
| NG_008201.1:g.8218G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.*4G>A MANE Select | ENSP00000364782.4:n.*4G>A | |
| ENST00000677054.1:n.2591G>A | ||
| ENST00000677512.1:n.1529G>A | ||
| ENST00000678869.1:n.1840G>A | ||
| ENST00000375631.4:c.*4G>A | ENSP00000364782.4:n.*4G>A | |
| ENST00000480384.1:n.1551G>A | ||
| ENST00000491768.5:c.*362G>A | ENSP00000433127.1:n.*362G>A | |
| ENST00000495807.1:n.2560G>A | ||
| NM_000434.3:c.*4G>A | NP_000425.1:n.*4G>A | |
| NM_000434.4:c.*4G>A MANE Select | NP_000425.1:n.*4G>A |