HGVS | Genome Assembly |
---|---|
NC_000005.10:g.93585299G>C , CM000667.2:g.93585299G>C | GRCh38 |
NC_000005.9:g.92921005G>C , CM000667.1:g.92921005G>C | GRCh37 |
NC_000005.8:g.92946761G>C | NCBI36 |
NG_034119.1:g.6963G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000615873.2:c.201G>C | ENSP00000481517.1:p.Lys67Asn | |
ENST00000327111.8:c.276G>C MANE Select | ENSP00000325819.3:p.Lys92Asn | |
ENST00000647447.1:c.123G>C | ENSP00000495740.1:p.Lys41Asn | |
ENST00000327111.7:c.276G>C | ENSP00000325819.3:p.Lys92Asn | |
ENST00000615873.1:c.201G>C | ENSP00000481517.1:p.Lys67Asn | |
NM_005654.5:c.276G>C | NP_005645.1:p.Lys92Asn | |
NM_005654.6:c.276G>C MANE Select | NP_005645.1:p.Lys92Asn |