MutSpliceDB:
MyVariant.info:
GRCh37
chr2:g.97463383A>G
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96797646A>G , CM000664.2:g.96797646A>G | GRCh38 |
| NC_000002.11:g.97463383A>G , CM000664.1:g.97463383A>G | GRCh37 |
| NC_000002.10:g.96827110A>G | NCBI36 |
| NG_016608.1:g.41745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.1680A>G MANE Select | ENSP00000366275.2:p.Thr560= | |
| ENST00000377075.2:c.1680A>G | ENSP00000366275.2:p.Thr560= | |
| ENST00000493384.1:n.460A>G | ||
| ENST00000496186.5:n.354A>G | ||
| NM_020184.3:c.1680A>G | NP_064569.3:p.Thr560= | |
| XM_005263914.2:c.1680A>G | XP_005263971.1:p.Thr560= | |
| XM_005263915.2:c.1680A>G | XP_005263972.1:p.Thr560= | |
| XM_011510955.1:c.1680A>G | XP_011509257.1:p.Thr560= | |
| XM_005263914.4:c.1680A>G | XP_005263971.1:p.Thr560= | |
| XM_005263915.4:c.1680A>G | XP_005263972.1:p.Thr560= | |
| XM_011510955.3:c.1680A>G | XP_011509257.1:p.Thr560= | |
| XM_017003799.1:c.141A>G | XP_016859288.1:p.Thr47= | |
| NM_020184.4:c.1680A>G MANE Select | NP_064569.3:p.Thr560= |