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Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.50074219C>G , CM000684.2:g.50074219C>G
GRCh38
NC_000022.10:g.50512648C>G , CM000684.1:g.50512648C>G
GRCh37
NC_000022.9:g.48854775C>G
NCBI36
NG_009162.1:g.16711G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000311597.10:c.711G>C
MANE Select
ENSP00000310375.6:p.Val237=
ENST00000311597.9:c.711G>C
ENSP00000310375.5:p.Val237=
ENST00000395876.6:c.711G>C
ENSP00000379216.2:p.Val237=
ENST00000442311.1:c.621G>C
ENSP00000401385.1:p.Val207=
ENST00000470008.1:n.191G>C
NM_015166.3:c.711G>C
NP_055981.1:p.Val237=
NM_139202.2:c.711G>C
NP_631941.1:p.Val237=
XM_011530678.1:c.711G>C
XP_011528980.1:p.Val237=
XR_430476.2:n.1106G>C
XM_011530678.2:c.711G>C
XP_011528980.1:p.Val237=
XM_017028671.1:c.711G>C
XP_016884160.1:p.Val237=
XR_001755180.2:n.1216G>C
XR_001755181.2:n.984G>C
NM_001376472.1:c.711G>C
NP_001363401.1:p.Val237=
NM_001376473.1:c.711G>C
NP_001363402.1:p.Val237=
NM_001376474.1:c.711G>C
NP_001363403.1:p.Val237=
NM_001376475.1:c.711G>C
NP_001363404.1:p.Val237=
NM_001376476.1:c.711G>C
NP_001363405.1:p.Val237=
NM_001376477.1:c.711G>C
NP_001363406.1:p.Val237=
NM_001376478.1:c.711G>C
NP_001363407.1:p.Val237=
NM_001376479.1:c.711G>C
NP_001363408.1:p.Val237=
NM_001376480.1:c.621G>C
NP_001363409.1:p.Val207=
NM_001376481.1:c.609G>C
NP_001363410.1:p.Val203=
NM_001376482.1:c.555G>C
NP_001363411.1:p.Val185=
NM_001376483.1:c.555G>C
NP_001363412.1:p.Val185=
NM_001376484.1:c.474G>C
NP_001363413.1:p.Val158=
NM_015166.4:c.711G>C
MANE Select
NP_055981.1:p.Val237=
NM_139202.3:c.711G>C
NP_631941.1:p.Val237=
NR_164811.1:n.1058G>C
NR_164812.1:n.842G>C
NR_164813.1:n.1235G>C