Canonical Allele Identifier: CA7480694

Gene: IVD

Linked Data

• dbSNP Id: rs757778820
• ExAC: 15:40703806 T / G
• gnomAD v2: 15-40703806-T-G
• gnomAD v4: 15-40411607-T-G
• MyVariant Identifiers: chr15:g.40703806T>G (hg19) ; chr15:g.40411607T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411607T>G , CM000677.2:g.40411607T>G	GRCh38
NC_000015.9:g.40703806T>G , CM000677.1:g.40703806T>G	GRCh37
NC_000015.8:g.38491098T>G	NCBI36
NG_011986.1:g.11121T>G
NG_011986.2:g.11123T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.513T>G	ENSP00000417990.3:p.Asp171Glu
ENST00000487418.8:c.603T>G MANE Select	ENSP00000418397.3:p.Asp201Glu
ENST00000650656.1:c.522T>G	ENSP00000498731.1:p.Asp174Glu
ENST00000651168.1:c.612T>G	ENSP00000499074.1:p.Asp204Glu
ENST00000473112.6:c.362T>G
ENST00000479013.6:c.522T>G	ENSP00000417990.2:p.Asp174Glu
ENST00000481262.6:c.209T>G
ENST00000484250.1:n.226T>G
ENST00000487418.6:c.612T>G	ENSP00000418397.2:p.Asp204Glu
ENST00000558610.5:c.555T>G	ENSP00000453821.1:p.Asp185Glu
NM_001159508.1:c.522T>G	NP_001152980.1:p.Asp174Glu
NM_002225.3:c.612T>G	NP_002216.2:p.Asp204Glu
XM_005254350.2:c.612T>G	XP_005254407.1:p.Asp204Glu
XM_005254356.2:c.612T>G	XP_005254413.1:p.Asp204Glu
XM_006720491.2:c.555T>G	XP_006720554.1:p.Asp185Glu
XM_006720492.2:c.612T>G	XP_006720555.1:p.Asp204Glu
XM_006720493.2:c.612T>G	XP_006720556.1:p.Asp204Glu
XM_006720494.2:c.612T>G	XP_006720557.1:p.Asp204Glu
XM_006720495.2:c.612T>G	XP_006720558.1:p.Asp204Glu
XM_011521523.1:c.612T>G	XP_011519825.1:p.Asp204Glu
XM_011521524.1:c.612T>G	XP_011519826.1:p.Asp204Glu
XR_243097.3:n.612T>G
XR_243098.2:n.612T>G
XR_429453.2:n.713T>G
NM_001159508.2:c.513T>G	NP_001152980.2:p.Asp171Glu
NM_001354597.2:c.555T>G	NP_001341526.1:p.Asp185Glu
NM_001354598.2:c.603T>G	NP_001341527.2:p.Asp201Glu
NM_001354599.2:c.690T>G	NP_001341528.2:p.Asp230Glu
NM_001354600.2:c.690T>G	NP_001341529.2:p.Asp230Glu
NM_001354601.2:c.603T>G	NP_001341530.2:p.Asp201Glu
NM_002225.4:c.603T>G	NP_002216.3:p.Asp201Glu
NR_148925.1:n.1013T>G
XM_006720495.3:c.612T>G	XP_006720558.1:p.Asp204Glu
XM_017022149.1:c.699T>G	XP_016877638.1:p.Asp233Glu
XM_017022150.1:c.699T>G	XP_016877639.1:p.Asp233Glu
XM_017022153.1:c.699T>G	XP_016877642.1:p.Asp233Glu
XM_017022154.2:c.642T>G	XP_016877643.1:p.Asp214Glu
XM_017022155.2:c.699T>G	XP_016877644.1:p.Asp233Glu
XM_017022157.1:c.699T>G	XP_016877646.1:p.Asp233Glu
XM_017022158.2:c.699T>G	XP_016877647.1:p.Asp233Glu
XR_001751263.1:n.962T>G
XR_001751264.1:n.1003T>G
NM_001159508.3:c.513T>G	NP_001152980.2:p.Asp171Glu
NM_001354597.3:c.555T>G	NP_001341526.1:p.Asp185Glu
NM_001354598.3:c.603T>G	NP_001341527.2:p.Asp201Glu
NM_001354599.3:c.690T>G	NP_001341528.2:p.Asp230Glu
NM_001354600.3:c.690T>G	NP_001341529.2:p.Asp230Glu
NM_001354601.3:c.603T>G	NP_001341530.2:p.Asp201Glu
NM_002225.5:c.603T>G MANE Select	NP_002216.3:p.Asp201Glu
NR_148925.2:n.1015T>G