HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31167219A>G , CM000670.2:g.31167219A>G | GRCh38 |
NC_000008.10:g.31024735A>G , CM000670.1:g.31024735A>G | GRCh37 |
NC_000008.9:g.31144277A>G | NCBI36 |
NG_008870.1:g.138958A>G , LRG_524:g.138958A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.4180A>G MANE Select | ENSP00000298139.5:p.Ile1394Val | |
ENST00000650667.1:c.*3794A>G | ENSP00000498593.1:n.*3794A>G | |
ENST00000651946.1:n.404A>G | ||
ENST00000298139.5:c.4180A>G | ENSP00000298139.5:p.Ile1394Val | |
ENST00000521620.5:n.2813A>G | ||
NM_000553.4:c.4180A>G , LRG_524t1:c.4180A>G | NP_000544.2:p.Ile1394Val | |
XM_011544639.1:c.4099A>G | XP_011542941.1:p.Ile1367Val | |
XM_011544640.1:c.2581A>G | XP_011542942.1:p.Ile861Val | |
XR_949643.1:n.266-27T>C | ||
XR_949644.1:n.266-27T>C | ||
XR_949645.1:n.266-27T>C | ||
XR_949646.1:n.266-27T>C | ||
XR_949647.1:n.879-27T>C | ||
XR_949648.1:n.781-27T>C | ||
NM_000553.5:c.4180A>G | NP_000544.2:p.Ile1394Val | |
XM_011544639.3:c.4099A>G | XP_011542941.1:p.Ile1367Val | |
XM_024447265.1:c.3970A>G | XP_024303033.1:p.Ile1324Val | |
NM_000553.6:c.4180A>G MANE Select | NP_000544.2:p.Ile1394Val |