MyVariant.info:
GRCh37
chr1:g.103463875A>G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102998319A>G , CM000663.2:g.102998319A>G | GRCh38 |
| NC_000001.10:g.103463875A>G , CM000663.1:g.103463875A>G | GRCh37 |
| NC_000001.9:g.103236463A>G | NCBI36 |
| NG_008033.1:g.115178T>C | |
| NG_008033.2:g.115178T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2187T>C MANE Select | ENSP00000359114.3:p.Asp729= | |
| ENST00000353414.8:c.2070T>C | ENSP00000302551.6:p.Asp690= | |
| ENST00000358392.6:c.2223T>C | ENSP00000351163.2:p.Asp741= | |
| ENST00000370096.7:c.2187T>C | ENSP00000359114.3:p.Asp729= | |
| ENST00000512756.5:c.1839T>C | ENSP00000426533.1:p.Asp613= | |
| ENST00000635193.1:c.1505T>C | ||
| NM_001190709.1:c.2070T>C | NP_001177638.1:p.Asp690= | |
| NM_001854.3:c.2187T>C | NP_001845.3:p.Asp729= | |
| NM_080629.2:c.2223T>C | NP_542196.2:p.Asp741= | |
| NM_080630.3:c.1839T>C | NP_542197.3:p.Asp613= | |
| XM_011540719.1:c.2187T>C | XP_011539021.1:p.Asp729= | |
| XM_011540720.1:c.420T>C | XP_011539022.1:p.Asp140= | |
| XM_011540721.1:c.-242T>C | XP_011539023.1:n.-242T>C | |
| XR_946545.1:n.2585T>C | ||
| NR_134980.1:n.2505T>C | ||
| XM_017000334.1:c.2340T>C | XP_016855823.1:p.Asp780= | |
| XM_017000335.1:c.2334T>C | XP_016855824.1:p.Asp778= | |
| XM_017000336.1:c.2340T>C | XP_016855825.1:p.Asp780= | |
| XM_017000337.1:c.738T>C | XP_016855826.1:p.Asp246= | |
| NM_001854.4:c.2187T>C MANE Select | NP_001845.3:p.Asp729= | |
| NM_080630.4:c.1839T>C | NP_542197.3:p.Asp613= | |
| NR_134980.2:n.2531T>C | ||
| NM_001190709.2:c.2070T>C | NP_001177638.1:p.Asp690= | |
| NM_080629.3:c.2223T>C | NP_542196.2:p.Asp741= |