HGVS | Genome Assembly |
---|---|
NC_000003.12:g.142562770A>G , CM000665.2:g.142562770A>G | GRCh38 |
NC_000003.11:g.142281612A>G , CM000665.1:g.142281612A>G | GRCh37 |
NC_000003.10:g.143764302A>G | NCBI36 |
NG_008951.1:g.21057T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000350721.9:c.632T>C MANE Select | ENSP00000343741.4:p.Met211Thr | |
ENST00000515149.3:c.293-1349T>C | ENSP00000425897.3:n.293-1349T>C | |
ENST00000653868.1:n.661T>C | ||
ENST00000657914.1:n.2990T>C | ||
ENST00000659195.1:n.2697T>C | ||
ENST00000661310.1:c.632T>C | ENSP00000499589.1:p.Met211Thr | |
ENST00000350721.8:c.632T>C | ENSP00000343741.4:p.Met211Thr | |
ENST00000507148.1:c.293-422T>C | ENSP00000426595.1:n.293-422T>C | |
NM_001184.3:c.632T>C | NP_001175.2:p.Met211Thr | |
XM_011512924.1:c.632T>C | XP_011511226.1:p.Met211Thr | |
XM_011512925.1:c.632T>C | XP_011511227.1:p.Met211Thr | |
XM_011512926.1:c.632T>C | XP_011511228.1:p.Met211Thr | |
XM_011512927.1:c.632T>C | XP_011511229.1:p.Met211Thr | |
XR_924147.1:n.721T>C | ||
XR_924148.1:n.721T>C | ||
XR_924149.1:n.721T>C | ||
NM_001354579.1:c.632T>C | NP_001341508.1:p.Met211Thr | |
XR_001740179.2:n.721T>C | ||
XR_001740180.2:n.721T>C | ||
XR_001740181.2:n.721T>C | ||
XR_001740182.1:n.721T>C | ||
XR_002959543.1:n.721T>C | ||
XR_924148.2:n.721T>C | ||
NM_001184.4:c.632T>C MANE Select | NP_001175.2:p.Met211Thr | |
NM_001354579.2:c.632T>C | NP_001341508.1:p.Met211Thr |