Canonical Allele Identifier: CA391717829
Gene: IVD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40411648C>T , CM000677.2:g.40411648C>T GRCh38
NC_000015.9:g.40703847C>T , CM000677.1:g.40703847C>T GRCh37
NC_000015.8:g.38491139C>T NCBI36
NG_011986.1:g.11162C>T
NG_011986.2:g.11164C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000479013.7:c.554C>T ENSP00000417990.3:p.Ala185Val
ENST00000487418.8:c.644C>T MANE Select ENSP00000418397.3:p.Ala215Val
ENST00000650656.1:c.563C>T ENSP00000498731.1:p.Ala188Val
ENST00000651168.1:c.653C>T ENSP00000499074.1:p.Ala218Val
ENST00000473112.6:c.403C>T
ENST00000479013.6:c.563C>T ENSP00000417990.2:p.Ala188Val
ENST00000481262.6:c.250C>T
ENST00000484250.1:n.267C>T
ENST00000487418.6:c.653C>T ENSP00000418397.2:p.Ala218Val
ENST00000491554.6:c.41C>T ENSP00000453146.1:p.Ala14Val
ENST00000558610.5:c.596C>T ENSP00000453821.1:p.Ala199Val
NM_001159508.1:c.563C>T NP_001152980.1:p.Ala188Val
NM_002225.3:c.653C>T NP_002216.2:p.Ala218Val
XM_005254350.2:c.653C>T XP_005254407.1:p.Ala218Val
XM_005254356.2:c.653C>T XP_005254413.1:p.Ala218Val
XM_006720491.2:c.596C>T XP_006720554.1:p.Ala199Val
XM_006720492.2:c.653C>T XP_006720555.1:p.Ala218Val
XM_006720493.2:c.653C>T XP_006720556.1:p.Ala218Val
XM_006720494.2:c.653C>T XP_006720557.1:p.Ala218Val
XM_006720495.2:c.653C>T XP_006720558.1:p.Ala218Val
XM_011521523.1:c.653C>T XP_011519825.1:p.Ala218Val
XM_011521524.1:c.653C>T XP_011519826.1:p.Ala218Val
XR_243097.3:n.653C>T
XR_243098.2:n.653C>T
XR_429453.2:n.754C>T
NM_001159508.2:c.554C>T NP_001152980.2:p.Ala185Val
NM_001354597.2:c.596C>T NP_001341526.1:p.Ala199Val
NM_001354598.2:c.644C>T NP_001341527.2:p.Ala215Val
NM_001354599.2:c.731C>T NP_001341528.2:p.Ala244Val
NM_001354600.2:c.731C>T NP_001341529.2:p.Ala244Val
NM_001354601.2:c.644C>T NP_001341530.2:p.Ala215Val
NM_002225.4:c.644C>T NP_002216.3:p.Ala215Val
NR_148925.1:n.1054C>T
XM_006720495.3:c.653C>T XP_006720558.1:p.Ala218Val
XM_017022149.1:c.740C>T XP_016877638.1:p.Ala247Val
XM_017022150.1:c.740C>T XP_016877639.1:p.Ala247Val
XM_017022153.1:c.740C>T XP_016877642.1:p.Ala247Val
XM_017022154.2:c.683C>T XP_016877643.1:p.Ala228Val
XM_017022155.2:c.740C>T XP_016877644.1:p.Ala247Val
XM_017022157.1:c.740C>T XP_016877646.1:p.Ala247Val
XM_017022158.2:c.740C>T XP_016877647.1:p.Ala247Val
XR_001751263.1:n.1003C>T
XR_001751264.1:n.1044C>T
NM_001159508.3:c.554C>T NP_001152980.2:p.Ala185Val
NM_001354597.3:c.596C>T NP_001341526.1:p.Ala199Val
NM_001354598.3:c.644C>T NP_001341527.2:p.Ala215Val
NM_001354599.3:c.731C>T NP_001341528.2:p.Ala244Val
NM_001354600.3:c.731C>T NP_001341529.2:p.Ala244Val
NM_001354601.3:c.644C>T NP_001341530.2:p.Ala215Val
NM_002225.5:c.644C>T MANE Select NP_002216.3:p.Ala215Val
NR_148925.2:n.1056C>T