Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31859938G>T , CM000668.2:g.31859938G>T | GRCh38 |
| NC_000006.11:g.31827715G>T , CM000668.1:g.31827715G>T | GRCh37 |
| NC_000006.10:g.31935694G>T | NCBI36 |
| NG_008201.1:g.7995C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.1029C>A MANE Select | ENSP00000364782.4:p.Asn343Lys | |
| ENST00000677054.1:n.2368C>A | ||
| ENST00000677512.1:n.1306C>A | ||
| ENST00000678869.1:n.1617C>A | ||
| ENST00000375631.4:c.1029C>A | ENSP00000364782.4:p.Asn343Lys | |
| ENST00000480384.1:n.1328C>A | ||
| ENST00000491768.5:c.*139C>A | ENSP00000433127.1:n.*139C>A | |
| ENST00000495807.1:n.2337C>A | ||
| NM_000434.3:c.1029C>A | NP_000425.1:p.Asn343Lys | |
| NM_000434.4:c.1029C>A MANE Select | NP_000425.1:p.Asn343Lys |