HGVS | Genome Assembly |
---|---|
NC_000019.10:g.44908834T>C , CM000681.2:g.44908834T>C | GRCh38 |
NC_000019.9:g.45412091T>C , CM000681.1:g.45412091T>C | GRCh37 |
NC_000019.8:g.50103931T>C | NCBI36 |
NG_007084.2:g.8053T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252486.9:c.538T>C MANE Select | ENSP00000252486.3:p.Tyr180His | |
ENST00000252486.8:c.538T>C | ENSP00000252486.3:p.Tyr180His | |
ENST00000425718.1:c.538T>C | ENSP00000410423.1:p.Tyr180His | |
ENST00000434152.5:c.616T>C | ENSP00000413653.2:p.Tyr206His | |
ENST00000446996.5:c.538T>C | ENSP00000413135.1:p.Tyr180His | |
NM_000041.3:c.538T>C | NP_000032.1:p.Tyr180His | |
NM_001302688.1:c.616T>C | NP_001289617.1:p.Tyr206His | |
NM_001302689.1:c.538T>C | NP_001289618.1:p.Tyr180His | |
NM_001302690.1:c.538T>C | NP_001289619.1:p.Tyr180His | |
NM_001302691.1:c.538T>C | NP_001289620.1:p.Tyr180His | |
NM_000041.4:c.538T>C MANE Select | NP_000032.1:p.Tyr180His | |
NM_001302688.2:c.616T>C | NP_001289617.1:p.Tyr206His | |
NM_001302689.2:c.538T>C | NP_001289618.1:p.Tyr180His | |
NM_001302691.2:c.538T>C | NP_001289620.1:p.Tyr180His | |
NM_001302690.2:c.538T>C | NP_001289619.1:p.Tyr180His |