Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74763481A>C , CM000679.2:g.74763481A>C | GRCh38 |
| NC_000017.10:g.72759620A>C , CM000679.1:g.72759620A>C | GRCh37 |
| NC_000017.9:g.70271215A>C | NCBI36 |
| NG_013022.1:g.19858A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262613.10:c.718A>C MANE Select | ENSP00000262613.5:p.Lys240Gln | |
| ENST00000262613.9:c.718A>C | ENSP00000262613.5:p.Lys240Gln | |
| ENST00000413388.2:c.250A>C | ENSP00000464982.1:p.Lys84Gln | |
| ENST00000578958.1:n.452A>C | ||
| ENST00000581356.1:c.54A>C | ||
| ENST00000583369.5:c.442-4666A>C | ENSP00000464321.1:n.442-4666A>C | |
| NM_004252.4:c.718A>C | NP_004243.1:p.Lys240Gln | |
| XR_002958087.1:n.937A>C | ||
| NM_004252.5:c.718A>C MANE Select | NP_004243.1:p.Lys240Gln |