MyVariant.info:
GRCh37
chr12:g.133236000C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132659414C>A , CM000674.2:g.132659414C>A | GRCh38 |
| NC_000012.11:g.133236000C>A , CM000674.1:g.133236000C>A | GRCh37 |
| NC_000012.10:g.131746073C>A | NCBI36 |
| NG_033840.1:g.33111G>T , LRG_789:g.33111G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544870.6:c.777G>T | ENSP00000479927.2:p.Thr259= | |
| ENST00000699982.1:c.3010G>T | ||
| ENST00000699983.1:c.3010G>T | ||
| ENST00000699984.1:c.3010G>T | ||
| ENST00000320574.10:c.3156G>T MANE Select | ENSP00000322570.5:p.Thr1052= | |
| ENST00000672002.1:c.777G>T | ENSP00000500233.1:p.Thr259= | |
| ENST00000672742.1:c.*2658G>T | ENSP00000500279.1:n.*2658G>T | |
| ENST00000320574.9:c.3156G>T | ENSP00000322570.5:p.Thr1052= | |
| ENST00000535270.5:c.3075G>T | ENSP00000445753.1:p.Thr1025= | |
| ENST00000536445.5:n.1500G>T | ||
| ENST00000537064.5:c.*2203G>T | ENSP00000442578.1:n.*2203G>T | |
| NM_006231.3:c.3156G>T , LRG_789t1:c.3156G>T | NP_006222.2:p.Thr1052= | |
| XM_011534795.1:c.3156G>T | XP_011533097.1:p.Thr1052= | |
| XM_011534796.1:c.3027G>T | XP_011533098.1:p.Thr1009= | |
| XM_011534797.1:c.2235G>T | XP_011533099.1:p.Thr745= | |
| XM_011534798.1:c.1818G>T | XP_011533100.1:p.Thr606= | |
| XM_011534799.1:c.3156G>T | XP_011533101.1:p.Thr1052= | |
| XM_011534800.1:c.3156G>T | XP_011533102.1:p.Thr1052= | |
| XM_011534801.1:c.3156G>T | XP_011533103.1:p.Thr1052= | |
| XM_011534802.1:c.144G>T | XP_011533104.1:p.Thr48= | |
| XR_941395.1:n.3365G>T | ||
| XM_011534795.3:c.3156G>T | XP_011533097.1:p.Thr1052= | |
| XM_011534797.3:c.2235G>T | XP_011533099.1:p.Thr745= | |
| XM_011534799.2:c.3156G>T | XP_011533101.1:p.Thr1052= | |
| XM_011534802.3:c.144G>T | XP_011533104.1:p.Thr48= | |
| XR_002957338.1:n.3360G>T | ||
| XR_002957339.1:n.3360G>T | ||
| XR_941395.2:n.3360G>T | ||
| NM_006231.4:c.3156G>T MANE Select | NP_006222.2:p.Thr1052= |