HGVS | Genome Assembly |
---|---|
NC_000010.11:g.123034418T>C , CM000672.2:g.123034418T>C | GRCh38 |
NC_000010.10:g.124793934T>C , CM000672.1:g.124793934T>C | GRCh37 |
NC_000010.9:g.124783924T>C | NCBI36 |
NG_008003.1:g.30506T>C , LRG_451:g.30506T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358776.7:c.105T>C MANE Select | ENSP00000357873.3:p.Ser35= | |
ENST00000358776.6:c.105T>C | ENSP00000357873.3:p.Ser35= | |
ENST00000368869.8:c.-101T>C | ENSP00000357862.4:n.-101T>C | |
ENST00000411816.2:n.122T>C | ||
NM_001609.3:c.105T>C , LRG_451t1:c.105T>C | NP_001600.1:p.Ser35= | |
NM_001330174.1:c.-101T>C | NP_001317103.1:n.-101T>C | |
NM_001330174.2:c.-101T>C | NP_001317103.1:n.-101T>C | |
NM_001609.4:c.105T>C MANE Select | NP_001600.1:p.Ser35= | |
NM_001330174.3:c.-101T>C | NP_001317103.1:n.-101T>C |