HGVS | Genome Assembly |
---|---|
NC_000013.11:g.33024571T>C , CM000675.2:g.33024571T>C | GRCh38 |
NC_000013.10:g.33598709T>C , CM000675.1:g.33598709T>C | GRCh37 |
NC_000013.9:g.32496709T>C | NCBI36 |
NG_011485.1:g.13139T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380099.4:c.819+7312T>C MANE Select | ENSP00000369442.3:n.819+7312T>C | |
ENST00000380099.3:c.819+7312T>C | ENSP00000369442.3:n.819+7312T>C | |
ENST00000487852.1:n.827+7312T>C | ||
NM_004795.3:c.819+7312T>C | NP_004786.2:n.819+7312T>C | |
XM_006719895.1:c.-103+8258T>C | XP_006719958.1:n.-103+8258T>C | |
XM_006719895.2:c.-103+8258T>C | XP_006719958.1:n.-103+8258T>C | |
NM_004795.4:c.819+7312T>C MANE Select | NP_004786.2:n.819+7312T>C |