Canonical Allele Identifier: CA7480833

Gene: IVD

Linked Data

• ClinVar Variation Id: 315802
• ClinVar RCV Id: RCV000322652 ; RCV003243070
• dbSNP Id: rs368041528
• ExAC: 15:40708317 T / C
• gnomAD v2: 15-40708317-T-C
• gnomAD v3: 15-40416118-T-C
• gnomAD v4: 15-40416118-T-C
• MyVariant Identifiers: chr15:g.40708317T>C (hg19) ; chr15:g.40416118T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40416118T>C , CM000677.2:g.40416118T>C	GRCh38
NC_000015.9:g.40708317T>C , CM000677.1:g.40708317T>C	GRCh37
NC_000015.8:g.38495609T>C	NCBI36
NG_011986.1:g.15632T>C
NG_011986.2:g.15634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000479013.7:c.911T>C	ENSP00000417990.3:p.Met304Thr
ENST00000487418.8:c.1001T>C MANE Select	ENSP00000418397.3:p.Met334Thr
ENST00000650656.1:c.920T>C	ENSP00000498731.1:p.Met307Thr
ENST00000651168.1:c.1010T>C	ENSP00000499074.1:p.Met337Thr
ENST00000473112.6:c.719+636T>C
ENST00000479013.6:c.920T>C	ENSP00000417990.2:p.Met307Thr
ENST00000481262.6:c.513T>C
ENST00000487418.6:c.1010T>C	ENSP00000418397.2:p.Met337Thr
ENST00000491554.6:c.398T>C	ENSP00000453146.1:p.Met133Thr
ENST00000497252.5:n.382T>C
ENST00000497816.1:n.378T>C
NM_001159508.1:c.920T>C	NP_001152980.1:p.Met307Thr
NM_002225.3:c.1010T>C	NP_002216.2:p.Met337Thr
XM_005254350.2:c.1010T>C	XP_005254407.1:p.Met337Thr
XM_005254356.2:c.875+636T>C	XP_005254413.1:n.875+636T>C
XM_006720491.2:c.953T>C	XP_006720554.1:p.Met318Thr
XM_006720492.2:c.1010T>C	XP_006720555.1:p.Met337Thr
XM_006720493.2:c.1010T>C	XP_006720556.1:p.Met337Thr
XM_006720494.2:c.1010T>C	XP_006720557.1:p.Met337Thr
XM_006720495.2:c.969+636T>C	XP_006720558.1:n.969+636T>C
XM_011521523.1:c.1010T>C	XP_011519825.1:p.Met337Thr
XR_243097.3:n.916T>C
XR_243098.2:n.916T>C
XR_429453.2:n.1111T>C
NM_001159508.2:c.911T>C	NP_001152980.2:p.Met304Thr
NM_001354597.2:c.953T>C	NP_001341526.1:p.Met318Thr
NM_001354598.2:c.1001T>C	NP_001341527.2:p.Met334Thr
NM_001354599.2:c.1088T>C	NP_001341528.2:p.Met363Thr
NM_001354600.2:c.1088T>C	NP_001341529.2:p.Met363Thr
NM_001354601.2:c.1001T>C	NP_001341530.2:p.Met334Thr
NM_002225.4:c.1001T>C	NP_002216.3:p.Met334Thr
NR_148925.1:n.1411T>C
XM_006720495.3:c.969+636T>C	XP_006720558.1:n.969+636T>C
XM_017022149.1:c.1097T>C	XP_016877638.1:p.Met366Thr
XM_017022150.1:c.1097T>C	XP_016877639.1:p.Met366Thr
XM_017022153.1:c.1097T>C	XP_016877642.1:p.Met366Thr
XM_017022154.2:c.1040T>C	XP_016877643.1:p.Met347Thr
XM_017022155.2:c.1097T>C	XP_016877644.1:p.Met366Thr
XM_017022157.1:c.1056+636T>C	XP_016877646.1:n.1056+636T>C
XR_001751263.1:n.1360T>C
XR_001751264.1:n.1467T>C
NM_001159508.3:c.911T>C	NP_001152980.2:p.Met304Thr
NM_001354597.3:c.953T>C	NP_001341526.1:p.Met318Thr
NM_001354598.3:c.1001T>C	NP_001341527.2:p.Met334Thr
NM_001354599.3:c.1088T>C	NP_001341528.2:p.Met363Thr
NM_001354600.3:c.1088T>C	NP_001341529.2:p.Met363Thr
NM_001354601.3:c.1001T>C	NP_001341530.2:p.Met334Thr
NM_002225.5:c.1001T>C MANE Select	NP_002216.3:p.Met334Thr
NR_148925.2:n.1413T>C