MyVariant.info:
GRCh37
chr17:g.40716520A>C
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42564502A>C , CM000679.2:g.42564502A>C | GRCh38 |
| NC_000017.10:g.40716520A>C , CM000679.1:g.40716520A>C | GRCh37 |
| NC_000017.9:g.37970046A>C | NCBI36 |
| NG_029442.1:g.2443A>C | |
| NG_034110.1:g.7429A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393818.3:c.972A>C MANE Select | ENSP00000377406.1:p.Thr324= | |
| ENST00000393818.2:c.972A>C | ENSP00000377406.1:p.Thr324= | |
| ENST00000421097.6:c.972A>C | ENSP00000393564.2:p.Thr324= | |
| ENST00000588353.1:n.218A>C | ||
| ENST00000590958.5:c.1059A>C | ENSP00000464814.1:p.Thr353= | |
| ENST00000591753.1:n.1196A>C | ||
| ENST00000591779.5:c.87A>C | ENSP00000467687.1:p.Thr29= | |
| NM_001042529.2:c.972A>C | NP_001035994.1:p.Thr324= | |
| NM_001042532.3:c.1059A>C | NP_001035997.2:p.Thr353= | |
| NM_025233.6:c.972A>C | NP_079509.5:p.Thr324= | |
| XM_006722116.2:c.1059A>C | XP_006722179.1:p.Thr353= | |
| XM_011525300.1:c.972A>C | XP_011523602.1:p.Thr324= | |
| XM_011525301.1:c.972A>C | XP_011523603.1:p.Thr324= | |
| XR_429926.1:n.1465A>C | ||
| XM_006722116.4:c.1059A>C | XP_006722179.1:p.Thr353= | |
| XM_011525300.2:c.972A>C | XP_011523602.1:p.Thr324= | |
| NM_025233.7:c.972A>C MANE Select | NP_079509.5:p.Thr324= | |
| NM_001042529.3:c.972A>C | NP_001035994.1:p.Thr324= | |
| NM_001042532.4:c.1059A>C | NP_001035997.2:p.Thr353= |