Canonical Allele Identifier: CA391717699

Gene: IVD

Linked Data

• dbSNP Id: rs1891095620
• gnomAD v4: 15-40411617-C-G
• MyVariant Identifiers: chr15:g.40703816C>G (hg19) ; chr15:g.40411617C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411617C>G , CM000677.2:g.40411617C>G	GRCh38
NC_000015.9:g.40703816C>G , CM000677.1:g.40703816C>G	GRCh37
NC_000015.8:g.38491108C>G	NCBI36
NG_011986.1:g.11131C>G
NG_011986.2:g.11133C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.523C>G	ENSP00000417990.3:p.Leu175Val
ENST00000487418.8:c.613C>G MANE Select	ENSP00000418397.3:p.Leu205Val
ENST00000650656.1:c.532C>G	ENSP00000498731.1:p.Leu178Val
ENST00000651168.1:c.622C>G	ENSP00000499074.1:p.Leu208Val
ENST00000473112.6:c.372C>G
ENST00000479013.6:c.532C>G	ENSP00000417990.2:p.Leu178Val
ENST00000481262.6:c.219C>G
ENST00000484250.1:n.236C>G
ENST00000487418.6:c.622C>G	ENSP00000418397.2:p.Leu208Val
ENST00000491554.6:c.10C>G	ENSP00000453146.1:p.Leu4Val
ENST00000558610.5:c.565C>G	ENSP00000453821.1:p.Leu189Val
NM_001159508.1:c.532C>G	NP_001152980.1:p.Leu178Val
NM_002225.3:c.622C>G	NP_002216.2:p.Leu208Val
XM_005254350.2:c.622C>G	XP_005254407.1:p.Leu208Val
XM_005254356.2:c.622C>G	XP_005254413.1:p.Leu208Val
XM_006720491.2:c.565C>G	XP_006720554.1:p.Leu189Val
XM_006720492.2:c.622C>G	XP_006720555.1:p.Leu208Val
XM_006720493.2:c.622C>G	XP_006720556.1:p.Leu208Val
XM_006720494.2:c.622C>G	XP_006720557.1:p.Leu208Val
XM_006720495.2:c.622C>G	XP_006720558.1:p.Leu208Val
XM_011521523.1:c.622C>G	XP_011519825.1:p.Leu208Val
XM_011521524.1:c.622C>G	XP_011519826.1:p.Leu208Val
XR_243097.3:n.622C>G
XR_243098.2:n.622C>G
XR_429453.2:n.723C>G
NM_001159508.2:c.523C>G	NP_001152980.2:p.Leu175Val
NM_001354597.2:c.565C>G	NP_001341526.1:p.Leu189Val
NM_001354598.2:c.613C>G	NP_001341527.2:p.Leu205Val
NM_001354599.2:c.700C>G	NP_001341528.2:p.Leu234Val
NM_001354600.2:c.700C>G	NP_001341529.2:p.Leu234Val
NM_001354601.2:c.613C>G	NP_001341530.2:p.Leu205Val
NM_002225.4:c.613C>G	NP_002216.3:p.Leu205Val
NR_148925.1:n.1023C>G
XM_006720495.3:c.622C>G	XP_006720558.1:p.Leu208Val
XM_017022149.1:c.709C>G	XP_016877638.1:p.Leu237Val
XM_017022150.1:c.709C>G	XP_016877639.1:p.Leu237Val
XM_017022153.1:c.709C>G	XP_016877642.1:p.Leu237Val
XM_017022154.2:c.652C>G	XP_016877643.1:p.Leu218Val
XM_017022155.2:c.709C>G	XP_016877644.1:p.Leu237Val
XM_017022157.1:c.709C>G	XP_016877646.1:p.Leu237Val
XM_017022158.2:c.709C>G	XP_016877647.1:p.Leu237Val
XR_001751263.1:n.972C>G
XR_001751264.1:n.1013C>G
NM_001159508.3:c.523C>G	NP_001152980.2:p.Leu175Val
NM_001354597.3:c.565C>G	NP_001341526.1:p.Leu189Val
NM_001354598.3:c.613C>G	NP_001341527.2:p.Leu205Val
NM_001354599.3:c.700C>G	NP_001341528.2:p.Leu234Val
NM_001354600.3:c.700C>G	NP_001341529.2:p.Leu234Val
NM_001354601.3:c.613C>G	NP_001341530.2:p.Leu205Val
NM_002225.5:c.613C>G MANE Select	NP_002216.3:p.Leu205Val
NR_148925.2:n.1025C>G