Canonical Allele Identifier: CA7480566

Gene: IVD

Linked Data

• ClinVar Variation Id: 3112020
• ClinVar RCV Id: RCV004400948
• dbSNP Id: rs767782379
• ExAC: 15:40700145 G / C
• gnomAD v2: 15-40700145-G-C
• gnomAD v3: 15-40407946-G-C
• gnomAD v4: 15-40407946-G-C
• MyVariant Identifiers: chr15:g.40700145G>C (hg19) ; chr15:g.40407946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40407946G>C , CM000677.2:g.40407946G>C	GRCh38
NC_000015.9:g.40700145G>C , CM000677.1:g.40700145G>C	GRCh37
NC_000015.8:g.38487437G>C	NCBI36
NG_011986.1:g.7460G>C
NG_011986.2:g.7462G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.152G>C	ENSP00000417990.3:p.Trp51Ser
ENST00000487418.8:c.242G>C MANE Select	ENSP00000418397.3:p.Trp81Ser
ENST00000610693.5:c.329G>C	ENSP00000479359.2:p.Trp110Ser
ENST00000650656.1:c.161G>C	ENSP00000498731.1:p.Trp54Ser
ENST00000651168.1:c.251G>C	ENSP00000499074.1:p.Trp84Ser
ENST00000473112.6:c.1G>C
ENST00000479013.6:c.161G>C	ENSP00000417990.2:p.Trp54Ser
ENST00000487418.6:c.251G>C	ENSP00000418397.2:p.Trp84Ser
ENST00000558610.5:c.194G>C	ENSP00000453821.1:p.Trp65Ser
ENST00000610693.4:c.338G>C	ENSP00000479359.1:p.Trp113Ser
NM_001159508.1:c.161G>C	NP_001152980.1:p.Trp54Ser
NM_002225.3:c.251G>C	NP_002216.2:p.Trp84Ser
XM_005254350.2:c.251G>C	XP_005254407.1:p.Trp84Ser
XM_005254356.2:c.251G>C	XP_005254413.1:p.Trp84Ser
XM_006720491.2:c.194G>C	XP_006720554.1:p.Trp65Ser
XM_006720492.2:c.251G>C	XP_006720555.1:p.Trp84Ser
XM_006720493.2:c.251G>C	XP_006720556.1:p.Trp84Ser
XM_006720494.2:c.251G>C	XP_006720557.1:p.Trp84Ser
XM_006720495.2:c.251G>C	XP_006720558.1:p.Trp84Ser
XM_011521523.1:c.251G>C	XP_011519825.1:p.Trp84Ser
XM_011521524.1:c.251G>C	XP_011519826.1:p.Trp84Ser
XR_243097.3:n.251G>C
XR_243098.2:n.251G>C
XR_429453.2:n.352G>C
NM_001159508.2:c.152G>C	NP_001152980.2:p.Trp51Ser
NM_001354597.2:c.194G>C	NP_001341526.1:p.Trp65Ser
NM_001354598.2:c.242G>C	NP_001341527.2:p.Trp81Ser
NM_001354599.2:c.329G>C	NP_001341528.2:p.Trp110Ser
NM_001354600.2:c.329G>C	NP_001341529.2:p.Trp110Ser
NM_001354601.2:c.242G>C	NP_001341530.2:p.Trp81Ser
NM_002225.4:c.242G>C	NP_002216.3:p.Trp81Ser
NR_148925.1:n.652G>C
XM_006720495.3:c.251G>C	XP_006720558.1:p.Trp84Ser
XM_017022149.1:c.338G>C	XP_016877638.1:p.Trp113Ser
XM_017022150.1:c.338G>C	XP_016877639.1:p.Trp113Ser
XM_017022153.1:c.338G>C	XP_016877642.1:p.Trp113Ser
XM_017022154.2:c.281G>C	XP_016877643.1:p.Trp94Ser
XM_017022155.2:c.338G>C	XP_016877644.1:p.Trp113Ser
XM_017022157.1:c.338G>C	XP_016877646.1:p.Trp113Ser
XM_017022158.2:c.338G>C	XP_016877647.1:p.Trp113Ser
XR_001751263.1:n.601G>C
XR_001751264.1:n.642G>C
NM_001159508.3:c.152G>C	NP_001152980.2:p.Trp51Ser
NM_001354597.3:c.194G>C	NP_001341526.1:p.Trp65Ser
NM_001354598.3:c.242G>C	NP_001341527.2:p.Trp81Ser
NM_001354599.3:c.329G>C	NP_001341528.2:p.Trp110Ser
NM_001354600.3:c.329G>C	NP_001341529.2:p.Trp110Ser
NM_001354601.3:c.242G>C	NP_001341530.2:p.Trp81Ser
NM_002225.5:c.242G>C MANE Select	NP_002216.3:p.Trp81Ser
NR_148925.2:n.654G>C