Canonical Allele Identifier: CA391717825

Gene: IVD

Linked Data

• dbSNP Id: rs1157775463
• gnomAD v2: 15-40703846-G-C
• MyVariant Identifiers: chr15:g.40703846G>C (hg19) ; chr15:g.40411647G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40411647G>C , CM000677.2:g.40411647G>C	GRCh38
NC_000015.9:g.40703846G>C , CM000677.1:g.40703846G>C	GRCh37
NC_000015.8:g.38491138G>C	NCBI36
NG_011986.1:g.11161G>C
NG_011986.2:g.11163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.553G>C	ENSP00000417990.3:p.Ala185Pro
ENST00000487418.8:c.643G>C MANE Select	ENSP00000418397.3:p.Ala215Pro
ENST00000650656.1:c.562G>C	ENSP00000498731.1:p.Ala188Pro
ENST00000651168.1:c.652G>C	ENSP00000499074.1:p.Ala218Pro
ENST00000473112.6:c.402G>C
ENST00000479013.6:c.562G>C	ENSP00000417990.2:p.Ala188Pro
ENST00000481262.6:c.249G>C
ENST00000484250.1:n.266G>C
ENST00000487418.6:c.652G>C	ENSP00000418397.2:p.Ala218Pro
ENST00000491554.6:c.40G>C	ENSP00000453146.1:p.Ala14Pro
ENST00000558610.5:c.595G>C	ENSP00000453821.1:p.Ala199Pro
NM_001159508.1:c.562G>C	NP_001152980.1:p.Ala188Pro
NM_002225.3:c.652G>C	NP_002216.2:p.Ala218Pro
XM_005254350.2:c.652G>C	XP_005254407.1:p.Ala218Pro
XM_005254356.2:c.652G>C	XP_005254413.1:p.Ala218Pro
XM_006720491.2:c.595G>C	XP_006720554.1:p.Ala199Pro
XM_006720492.2:c.652G>C	XP_006720555.1:p.Ala218Pro
XM_006720493.2:c.652G>C	XP_006720556.1:p.Ala218Pro
XM_006720494.2:c.652G>C	XP_006720557.1:p.Ala218Pro
XM_006720495.2:c.652G>C	XP_006720558.1:p.Ala218Pro
XM_011521523.1:c.652G>C	XP_011519825.1:p.Ala218Pro
XM_011521524.1:c.652G>C	XP_011519826.1:p.Ala218Pro
XR_243097.3:n.652G>C
XR_243098.2:n.652G>C
XR_429453.2:n.753G>C
NM_001159508.2:c.553G>C	NP_001152980.2:p.Ala185Pro
NM_001354597.2:c.595G>C	NP_001341526.1:p.Ala199Pro
NM_001354598.2:c.643G>C	NP_001341527.2:p.Ala215Pro
NM_001354599.2:c.730G>C	NP_001341528.2:p.Ala244Pro
NM_001354600.2:c.730G>C	NP_001341529.2:p.Ala244Pro
NM_001354601.2:c.643G>C	NP_001341530.2:p.Ala215Pro
NM_002225.4:c.643G>C	NP_002216.3:p.Ala215Pro
NR_148925.1:n.1053G>C
XM_006720495.3:c.652G>C	XP_006720558.1:p.Ala218Pro
XM_017022149.1:c.739G>C	XP_016877638.1:p.Ala247Pro
XM_017022150.1:c.739G>C	XP_016877639.1:p.Ala247Pro
XM_017022153.1:c.739G>C	XP_016877642.1:p.Ala247Pro
XM_017022154.2:c.682G>C	XP_016877643.1:p.Ala228Pro
XM_017022155.2:c.739G>C	XP_016877644.1:p.Ala247Pro
XM_017022157.1:c.739G>C	XP_016877646.1:p.Ala247Pro
XM_017022158.2:c.739G>C	XP_016877647.1:p.Ala247Pro
XR_001751263.1:n.1002G>C
XR_001751264.1:n.1043G>C
NM_001159508.3:c.553G>C	NP_001152980.2:p.Ala185Pro
NM_001354597.3:c.595G>C	NP_001341526.1:p.Ala199Pro
NM_001354598.3:c.643G>C	NP_001341527.2:p.Ala215Pro
NM_001354599.3:c.730G>C	NP_001341528.2:p.Ala244Pro
NM_001354600.3:c.730G>C	NP_001341529.2:p.Ala244Pro
NM_001354601.3:c.643G>C	NP_001341530.2:p.Ala215Pro
NM_002225.5:c.643G>C MANE Select	NP_002216.3:p.Ala215Pro
NR_148925.2:n.1055G>C