Canonical Allele Identifier: CA391743479
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40405844G>T , CM000677.2:g.40405844G>T GRCh38
NC_000015.9:g.40698045G>T , CM000677.1:g.40698045G>T GRCh37
NC_000015.8:g.38485337G>T NCBI36
NG_011986.1:g.5360G>T
NG_011986.2:g.5360G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.17G>T ENSP00000417990.3:p.Arg6Leu
ENST00000487418.8:c.17G>T MANE Select ENSP00000418397.3:p.Arg6Leu
ENST00000610693.5:c.17G>T ENSP00000479359.2:p.Arg6Leu
ENST00000650656.1:c.26G>T ENSP00000498731.1:p.Arg9Leu
ENST00000651168.1:c.26G>T ENSP00000499074.1:p.Arg9Leu
ENST00000479013.6:c.26G>T ENSP00000417990.2:p.Arg9Leu
ENST00000487418.6:c.26G>T ENSP00000418397.2:p.Arg9Leu
ENST00000610693.4:c.26G>T ENSP00000479359.1:p.Arg9Leu
NM_001159508.1:c.26G>T NP_001152980.1:p.Arg9Leu
NM_002225.3:c.26G>T NP_002216.2:p.Arg9Leu
XM_005254350.2:c.26G>T XP_005254407.1:p.Arg9Leu
XM_005254356.2:c.26G>T XP_005254413.1:p.Arg9Leu
XM_006720492.2:c.26G>T XP_006720555.1:p.Arg9Leu
XM_006720493.2:c.26G>T XP_006720556.1:p.Arg9Leu
XM_006720494.2:c.26G>T XP_006720557.1:p.Arg9Leu
XM_006720495.2:c.26G>T XP_006720558.1:p.Arg9Leu
XM_011521523.1:c.26G>T XP_011519825.1:p.Arg9Leu
XM_011521524.1:c.26G>T XP_011519826.1:p.Arg9Leu
XR_243097.3:n.26G>T
XR_243098.2:n.26G>T
XR_429453.2:n.127G>T
NM_001159508.2:c.17G>T NP_001152980.2:p.Arg6Leu
NM_001354597.2:c.-411G>T NP_001341526.1:n.-411G>T
NM_001354598.2:c.17G>T NP_001341527.2:p.Arg6Leu
NM_001354599.2:c.17G>T NP_001341528.2:p.Arg6Leu
NM_001354600.2:c.17G>T NP_001341529.2:p.Arg6Leu
NM_001354601.2:c.17G>T NP_001341530.2:p.Arg6Leu
NM_002225.4:c.17G>T NP_002216.3:p.Arg6Leu
NR_148925.1:n.48G>T
XM_006720495.3:c.26G>T XP_006720558.1:p.Arg9Leu
XM_017022149.1:c.26G>T XP_016877638.1:p.Arg9Leu
XM_017022150.1:c.26G>T XP_016877639.1:p.Arg9Leu
XM_017022153.1:c.26G>T XP_016877642.1:p.Arg9Leu
XM_017022155.2:c.26G>T XP_016877644.1:p.Arg9Leu
XM_017022157.1:c.26G>T XP_016877646.1:p.Arg9Leu
XM_017022158.2:c.26G>T XP_016877647.1:p.Arg9Leu
XR_001751264.1:n.38G>T
NM_001159508.3:c.17G>T NP_001152980.2:p.Arg6Leu
NM_001354597.3:c.-411G>T NP_001341526.1:n.-411G>T
NM_001354598.3:c.17G>T NP_001341527.2:p.Arg6Leu
NM_001354599.3:c.17G>T NP_001341528.2:p.Arg6Leu
NM_001354600.3:c.17G>T NP_001341529.2:p.Arg6Leu
NM_001354601.3:c.17G>T NP_001341530.2:p.Arg6Leu
NM_002225.5:c.17G>T MANE Select NP_002216.3:p.Arg6Leu
NR_148925.2:n.50G>T