HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104034026T>G , CM000672.2:g.104034026T>G | GRCh38 |
NC_000010.10:g.105793784T>G , CM000672.1:g.105793784T>G | GRCh37 |
NC_000010.9:g.105783774T>G | NCBI36 |
NG_007069.1:g.56855A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369733.8:c.3829A>C | ENSP00000358748.3:p.Asn1277His | |
ENST00000647647.1:c.105A>C | ||
ENST00000648076.2:c.4075A>C MANE Select | ENSP00000497653.1:p.Asn1359His | |
ENST00000353479.9:c.4075A>C | ENSP00000340937.5:p.Asn1359His | |
ENST00000369733.7:c.3829A>C | ENSP00000358748.3:p.Asn1277His | |
NM_000494.3:c.4075A>C | NP_000485.3:p.Asn1359His | |
NM_000494.4:c.4075A>C MANE Select | NP_000485.3:p.Asn1359His |