MyVariant.info:
GRCh37
chr16:g.16248778G>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154921G>C , CM000678.2:g.16154921G>C | GRCh38 |
| NC_000016.9:g.16248778G>C , CM000678.1:g.16248778G>C | GRCh37 |
| NC_000016.8:g.16156279G>C | NCBI36 |
| NG_007558.2:g.73551C>G | |
| NG_007558.3:g.73697C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.856C>G | ||
| ENST00000622290.5:c.*165C>G | ENSP00000483331.2:n.*165C>G | |
| ENST00000205557.12:c.3993C>G MANE Select | ENSP00000205557.7:p.Ala1331= | |
| ENST00000640696.1:c.807C>G | ENSP00000492197.1:p.Ala269= | |
| ENST00000205557.11:c.3993C>G | ENSP00000205557.7:p.Ala1331= | |
| ENST00000456970.6:c.3618C>G | ENSP00000405002.2:n.3618C>G | |
| ENST00000576204.5:n.856C>G | ||
| ENST00000622290.4:c.*1202C>G | ENSP00000483331.1:n.*1202C>G | |
| NM_001171.5:c.3993C>G | NP_001162.4:p.Ala1331= | |
| XM_011522479.1:c.3960C>G | XP_011520781.1:p.Ala1320= | |
| XM_011522480.1:c.3651C>G | XP_011520782.1:p.Ala1217= | |
| XM_011522481.1:c.3651C>G | XP_011520783.1:p.Ala1217= | |
| XR_933134.1:n.539-4860G>C | ||
| NM_001351800.1:c.3651C>G | NP_001338729.1:p.Ala1217= | |
| NR_147784.1:n.3655C>G | ||
| XM_011522479.2:c.3960C>G | XP_011520781.1:p.Ala1320= | |
| XM_011522481.3:c.3651C>G | XP_011520783.1:p.Ala1217= | |
| XM_017023212.1:c.3825C>G | XP_016878701.1:p.Ala1275= | |
| XM_024450261.1:c.4029C>G | XP_024306029.1:p.Ala1343= | |
| NM_001171.6:c.3993C>G MANE Select | NP_001162.5:p.Ala1331= |