Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69961094T>C , CM000664.2:g.69961094T>C | GRCh38 |
| NC_000002.11:g.70188226T>C , CM000664.1:g.70188226T>C | GRCh37 |
| NC_000002.10:g.70041730T>C | NCBI36 |
| NG_054918.1:g.6172A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_152792.4:c.343A>G MANE Select | NP_690005.3:p.Lys115Glu |
| ENST00000320256.6:c.343A>G MANE Select | ENSP00000315383.5:p.Lys115Glu |
| NM_152792.2:c.595A>G | NP_690005.2:p.Lys199Glu |
| NR_170375.1:n.1100+14461A>G | |
| NR_170376.1:n.701-17176A>G | |
| NR_170631.1:n.2886A>G | |
| NR_170632.1:n.3036A>G | |
| NR_170634.1:n.2948A>G | |
| NR_170635.1:n.3201A>G | |
| NR_170636.1:n.3813A>G | |
| NR_170637.1:n.3148A>G | |
| NR_170638.1:n.3291A>G | |
| NR_170639.1:n.3161A>G | |
| ENST00000320256.5:c.595A>G | ENSP00000315383.4:p.Lys199Glu |