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Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.50074221C= , CM000684.2:g.50074221C=
GRCh38
NC_000022.10:g.50512650C= , CM000684.1:g.50512650C=
GRCh37
NC_000022.9:g.48854777C=
NCBI36
NG_009162.1:g.16709G=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000311597.10:c.709G=
MANE Select
ENSP00000310375.6:p.Val237=
ENST00000311597.9:c.709G=
ENSP00000310375.5:p.Val237=
ENST00000395876.6:c.709G=
ENSP00000379216.2:p.Val237=
ENST00000442311.1:c.619G=
ENSP00000401385.1:p.Val207=
ENST00000470008.1:n.189G=
NM_015166.3:c.709G=
NP_055981.1:p.Val237=
NM_139202.2:c.709G=
NP_631941.1:p.Val237=
XM_011530678.1:c.709G=
XP_011528980.1:p.Val237=
XR_430476.2:n.1104G=
XM_011530678.2:c.709G=
XP_011528980.1:p.Val237=
XM_017028671.1:c.709G=
XP_016884160.1:p.Val237=
XR_001755180.2:n.1214G=
XR_001755181.2:n.982G=
NM_001376472.1:c.709G=
NP_001363401.1:p.Val237=
NM_001376473.1:c.709G=
NP_001363402.1:p.Val237=
NM_001376474.1:c.709G=
NP_001363403.1:p.Val237=
NM_001376475.1:c.709G=
NP_001363404.1:p.Val237=
NM_001376476.1:c.709G=
NP_001363405.1:p.Val237=
NM_001376477.1:c.709G=
NP_001363406.1:p.Val237=
NM_001376478.1:c.709G=
NP_001363407.1:p.Val237=
NM_001376479.1:c.709G=
NP_001363408.1:p.Val237=
NM_001376480.1:c.619G=
NP_001363409.1:p.Val207=
NM_001376481.1:c.607G=
NP_001363410.1:p.Val203=
NM_001376482.1:c.553G=
NP_001363411.1:p.Val185=
NM_001376483.1:c.553G=
NP_001363412.1:p.Val185=
NM_001376484.1:c.472G=
NP_001363413.1:p.Val158=
NM_015166.4:c.709G=
MANE Select
NP_055981.1:p.Val237=
NM_139202.3:c.709G=
NP_631941.1:p.Val237=
NR_164811.1:n.1056G=
NR_164812.1:n.840G=
NR_164813.1:n.1233G=