HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203867829G>T , CM000664.2:g.203867829G>T | GRCh38 |
NC_000002.11:g.204732552G>T , CM000664.1:g.204732552G>T | GRCh37 |
NC_000002.10:g.204440797G>T | NCBI36 |
NG_011502.1:g.5044G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696049.1:c.-114G>T | ENSP00000512353.1:n.-114G>T | |
ENST00000696479.1:c.48-89G>T | ENSP00000512655.1:n.48-89G>T | |
ENST00000648405.2:c.-114G>T MANE Select | ENSP00000497102.1:n.-114G>T | |
ENST00000302823.7:c.-114G>T | ENSP00000303939.3:n.-114G>T | |
NM_001037631.2:c.-114G>T | NP_001032720.1:n.-114G>T | |
NM_005214.4:c.-114G>T | NP_005205.2:n.-114G>T | |
XR_241294.1:n.27G>T | ||
NM_001037631.3:c.-114G>T | NP_001032720.1:n.-114G>T | |
NM_005214.5:c.-114G>T MANE Select | NP_005205.2:n.-114G>T |