HGVS | Genome Assembly |
---|---|
NC_000006.12:g.29830840G>C , CM000668.2:g.29830840G>C | GRCh38 |
NC_000006.11:g.29798617G>C , CM000668.1:g.29798617G>C | GRCh37 |
NC_000006.10:g.29906596G>C | NCBI36 |
NG_029039.1:g.8862G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360323.11:c.*101G>C MANE Select | ENSP00000353472.6:n.*101G>C | |
ENST00000360323.10:c.*101G>C | ENSP00000353472.6:n.*101G>C | |
ENST00000376815.3:c.566G>C | ENSP00000366011.3:n.566G>C | |
ENST00000376818.7:c.842G>C | ENSP00000366014.3:n.842G>C | |
ENST00000376828.6:c.*101G>C | ENSP00000366024.2:n.*101G>C | |
ENST00000428701.5:c.*101G>C | ENSP00000412927.1:n.*101G>C | |
ENST00000478355.5:n.1240G>C | ||
ENST00000478519.5:c.890G>C | ENSP00000436375.1:n.890G>C | |
NM_002127.5:c.*101G>C | NP_002118.1:n.*101G>C | |
NM_001363567.1:c.*101G>C | NP_001350496.1:n.*101G>C | |
XM_017010817.1:c.*101G>C | XP_016866306.1:n.*101G>C | |
NM_001363567.2:c.*101G>C | NP_001350496.1:n.*101G>C | |
NM_001384280.1:c.*101G>C | NP_001371209.1:n.*101G>C | |
NM_001384290.1:c.*101G>C MANE Select | NP_001371219.1:n.*101G>C | |
NM_002127.6:c.*101G>C | NP_002118.1:n.*101G>C |