HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29830642G>A , CM000668.2:g.29830642G>A | GRCh38 |
NC_000006.11:g.29798419G>A , CM000668.1:g.29798419G>A | GRCh37 |
NC_000006.10:g.29906398G>A | NCBI36 |
NG_029039.1:g.8664G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360323.11:c.*29-126G>A MANE Select | ENSP00000353472.6:n.*29-126G>A | |
ENST00000360323.10:c.*29-126G>A | ENSP00000353472.6:n.*29-126G>A | |
ENST00000376815.3:c.494-126G>A | ENSP00000366011.3:n.494-126G>A | |
ENST00000376818.7:c.770-126G>A | ENSP00000366014.3:n.770-126G>A | |
ENST00000376828.6:c.*29-126G>A | ENSP00000366024.2:n.*29-126G>A | |
ENST00000428701.5:c.*29-126G>A | ENSP00000412927.1:n.*29-126G>A | |
ENST00000478355.5:n.1168-126G>A | ||
ENST00000478519.5:c.817+42G>A | ENSP00000436375.1:n.817+42G>A | |
NM_002127.5:c.*29-126G>A | NP_002118.1:n.*29-126G>A | |
NM_001363567.1:c.*29-126G>A | NP_001350496.1:n.*29-126G>A | |
XM_017010817.1:c.*29-126G>A | XP_016866306.1:n.*29-126G>A | |
NM_001363567.2:c.*29-126G>A | NP_001350496.1:n.*29-126G>A | |
NM_001384280.1:c.*29-126G>A | NP_001371209.1:n.*29-126G>A | |
NM_001384290.1:c.*29-126G>A MANE Select | NP_001371219.1:n.*29-126G>A | |
NM_002127.6:c.*29-126G>A | NP_002118.1:n.*29-126G>A |