HGVS | Genome Assembly |
---|---|
NC_000007.14:g.103515385C>G , CM000669.2:g.103515385C>G | GRCh38 |
NC_000007.13:g.103155832C>G , CM000669.1:g.103155832C>G | GRCh37 |
NC_000007.12:g.102943068C>G | NCBI36 |
NG_011877.1:g.479132G>C | |
NG_011877.2:g.479132G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000424685.3:c.7919G>C | ENSP00000388446.3:p.Trp2640Ser | |
ENST00000428762.6:c.7919G>C MANE Select | ENSP00000392423.1:p.Trp2640Ser | |
ENST00000679867.1:n.7803G>C | ||
ENST00000680248.1:n.1471G>C | ||
ENST00000681034.1:c.7919G>C | ENSP00000506075.1:p.Trp2640Ser | |
ENST00000681364.1:n.1168G>C | ||
ENST00000343529.9:c.7919G>C | ENSP00000345694.5:p.Trp2640Ser | |
ENST00000424685.2:c.7919G>C | ENSP00000388446.2:p.Trp2640Ser | |
ENST00000428762.5:c.7919G>C | ENSP00000392423.1:p.Trp2640Ser | |
NM_005045.3:c.7919G>C | NP_005036.2:p.Trp2640Ser | |
NM_173054.2:c.7919G>C | NP_774959.1:p.Trp2640Ser | |
NM_005045.4:c.7919G>C MANE Select | NP_005036.2:p.Trp2640Ser | |
NM_173054.3:c.7919G>C | NP_774959.1:p.Trp2640Ser |