MyVariant.info:
GRCh37
chr17:g.61566040A>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488679A>G , CM000679.2:g.63488679A>G | GRCh38 |
| NC_000017.10:g.61566040A>G , CM000679.1:g.61566040A>G | GRCh37 |
| NC_000017.9:g.58919772A>G | NCBI36 |
| NG_011648.1:g.16607A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2337A>G MANE Select | ENSP00000290866.4:p.Lys779= | |
| ENST00000290863.10:c.615A>G | ENSP00000290863.6:p.Lys205= | |
| ENST00000290866.9:c.2337A>G | ENSP00000290866.4:p.Lys779= | |
| ENST00000413513.7:c.615A>G | ENSP00000392247.3:p.Lys205= | |
| ENST00000428043.5:c.2337A>G | ENSP00000397593.2:p.Lys779= | |
| ENST00000577647.2:c.615A>G | ENSP00000464149.1:p.Lys205= | |
| ENST00000578839.5:c.*407A>G | ENSP00000462110.2:n.*407A>G | |
| ENST00000579204.1:c.596A>G | ENSP00000464629.1:n.596A>G | |
| ENST00000579314.5:c.*66A>G | ENSP00000462599.1:n.*66A>G | |
| ENST00000582005.5:c.*257A>G | ENSP00000462002.1:n.*257A>G | |
| ENST00000582761.1:c.105A>G | ENSP00000462909.1:p.Lys35= | |
| ENST00000584865.5:n.283A>G | ||
| NM_000789.3:c.2337A>G | NP_000780.1:p.Lys779= | |
| NM_001178057.1:c.615A>G | NP_001171528.1:p.Lys205= | |
| NM_152830.2:c.615A>G | NP_690043.1:p.Lys205= | |
| XM_005257110.1:c.1788A>G | XP_005257167.1:p.Lys596= | |
| XM_006721737.2:c.675A>G | XP_006721800.2:p.Lys225= | |
| XM_006721737.3:c.675A>G | XP_006721800.2:p.Lys225= | |
| NM_000789.4:c.2337A>G MANE Select | NP_000780.1:p.Lys779= | |
| NM_001178057.2:c.615A>G | NP_001171528.1:p.Lys205= | |
| NM_152830.3:c.615A>G | NP_690043.1:p.Lys205= | |
| NM_001382700.1:c.1770A>G | NP_001369629.1:p.Lys590= | |
| NM_001382701.1:c.1485A>G | NP_001369630.1:p.Lys495= | |
| NM_001382702.1:c.267A>G | NP_001369631.1:p.Lys89= | |
| NR_168483.1:n.715A>G |