Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226982T>G , CM000664.2:g.29226982T>G | GRCh38 |
| NC_000002.11:g.29449848T>G , CM000664.1:g.29449848T>G | GRCh37 |
| NC_000002.10:g.29303352T>G | NCBI36 |
| NG_009445.1:g.699585A>C , LRG_488:g.699585A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3007A>C MANE Select | ENSP00000373700.3:p.Lys1003Gln | |
| ENST00000431873.6:c.173A>C | ||
| ENST00000389048.7:c.3007A>C | ENSP00000373700.3:p.Lys1003Gln | |
| ENST00000618119.4:c.1876A>C | ENSP00000482733.1:p.Lys626Gln | |
| NM_004304.4:c.3007A>C | NP_004295.2:p.Lys1003Gln | |
| XM_024452778.1:c.160A>C | XP_024308546.1:p.Lys54Gln | |
| XR_001738688.2:n.3863A>C | ||
| NM_004304.5:c.3007A>C MANE Select | NP_004295.2:p.Lys1003Gln |