MyVariant.info:
GRCh37
chr1:g.103463878A>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102998322A>C , CM000663.2:g.102998322A>C | GRCh38 |
| NC_000001.10:g.103463878A>C , CM000663.1:g.103463878A>C | GRCh37 |
| NC_000001.9:g.103236466A>C | NCBI36 |
| NG_008033.1:g.115175T>G | |
| NG_008033.2:g.115175T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2184T>G MANE Select | ENSP00000359114.3:p.Ala728= | |
| ENST00000353414.8:c.2067T>G | ENSP00000302551.6:p.Ala689= | |
| ENST00000358392.6:c.2220T>G | ENSP00000351163.2:p.Ala740= | |
| ENST00000370096.7:c.2184T>G | ENSP00000359114.3:p.Ala728= | |
| ENST00000512756.5:c.1836T>G | ENSP00000426533.1:p.Ala612= | |
| ENST00000635193.1:c.1502T>G | ||
| NM_001190709.1:c.2067T>G | NP_001177638.1:p.Ala689= | |
| NM_001854.3:c.2184T>G | NP_001845.3:p.Ala728= | |
| NM_080629.2:c.2220T>G | NP_542196.2:p.Ala740= | |
| NM_080630.3:c.1836T>G | NP_542197.3:p.Ala612= | |
| XM_011540719.1:c.2184T>G | XP_011539021.1:p.Ala728= | |
| XM_011540720.1:c.417T>G | XP_011539022.1:p.Ala139= | |
| XM_011540721.1:c.-245T>G | XP_011539023.1:n.-245T>G | |
| XR_946545.1:n.2582T>G | ||
| NR_134980.1:n.2502T>G | ||
| XM_017000334.1:c.2337T>G | XP_016855823.1:p.Ala779= | |
| XM_017000335.1:c.2331T>G | XP_016855824.1:p.Ala777= | |
| XM_017000336.1:c.2337T>G | XP_016855825.1:p.Ala779= | |
| XM_017000337.1:c.735T>G | XP_016855826.1:p.Ala245= | |
| NM_001854.4:c.2184T>G MANE Select | NP_001845.3:p.Ala728= | |
| NM_080630.4:c.1836T>G | NP_542197.3:p.Ala612= | |
| NR_134980.2:n.2528T>G | ||
| NM_001190709.2:c.2067T>G | NP_001177638.1:p.Ala689= | |
| NM_080629.3:c.2220T>G | NP_542196.2:p.Ala740= |