Linked Data
ClinVar Variation Id:
553072
ClinVar RCV Id:
RCV000668446
dbSNP Id:
rs1457098622
gnomAD v2:
15-42703148-T-C
gnomAD v4:
15-42410950-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410950T>C , CM000677.2:g.42410950T>C | GRCh38 |
| NC_000015.9:g.42703148T>C , CM000677.1:g.42703148T>C | GRCh37 |
| NC_000015.8:g.40490440T>C | NCBI36 |
| NG_008660.1:g.67848T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000337571.9:c.335T>C | ENSP00000336840.4:p.Ile112Thr | |
| ENST00000349748.8:c.2054T>C | ENSP00000183936.4:p.Ile685Thr | |
| ENST00000357568.8:c.2312T>C | ENSP00000350181.3:p.Ile771Thr | |
| ENST00000397163.8:c.2330T>C MANE Select | ENSP00000380349.3:p.Ile777Thr | |
| ENST00000397204.9:c.335T>C | ENSP00000380387.4:p.Ile112Thr | |
| ENST00000466222.7:n.751+24T>C | ||
| ENST00000466369.5:n.2821T>C | ||
| ENST00000495723.1:n.3201T>C | ||
| ENST00000549793.5:n.2543T>C | ||
| ENST00000562199.2:c.334T>C | ENSP00000501034.1:n.334T>C | |
| ENST00000567817.6:c.119T>C | ENSP00000456514.2:p.Ile40Thr | |
| ENST00000568153.2:c.196T>C | ||
| ENST00000569136.6:c.335T>C | ENSP00000455254.1:p.Ile112Thr | |
| ENST00000638141.2:n.2069T>C | ||
| ENST00000673646.1:c.894T>C | ENSP00000501007.1:n.894T>C | |
| ENST00000673684.1:n.312T>C | ||
| ENST00000673692.1:c.335T>C | ENSP00000501138.1:p.Ile112Thr | |
| ENST00000673705.1:c.873T>C | ENSP00000501021.1:n.873T>C | |
| ENST00000673743.1:c.233T>C | ENSP00000500989.1:p.Ile78Thr | |
| ENST00000673750.1:c.335T>C | ENSP00000501173.1:p.Ile112Thr | |
| ENST00000673771.1:c.335T>C | ENSP00000501023.1:p.Ile112Thr | |
| ENST00000673774.1:n.1463T>C | ||
| ENST00000673839.1:c.335T>C | ENSP00000501188.1:p.Ile112Thr | |
| ENST00000673851.1:c.335T>C | ENSP00000501142.1:p.Ile112Thr | |
| ENST00000673854.1:n.5752T>C | ||
| ENST00000673886.1:c.335T>C | ENSP00000501155.1:p.Ile112Thr | |
| ENST00000673890.1:c.335T>C | ENSP00000501293.1:p.Ile112Thr | |
| ENST00000673928.1:c.335T>C | ENSP00000501099.1:p.Ile112Thr | |
| ENST00000673936.1:c.335T>C | ENSP00000501189.1:p.Ile112Thr | |
| ENST00000673939.1:c.*100+24T>C | ENSP00000501129.1:n.*100+24T>C | |
| ENST00000673950.1:n.604T>C | ||
| ENST00000673978.1:c.473T>C | ENSP00000500976.1:p.Ile158Thr | |
| ENST00000673987.1:c.*100+24T>C | ENSP00000501231.1:n.*100+24T>C | |
| ENST00000674011.1:c.*124T>C | ENSP00000501171.1:n.*124T>C | |
| ENST00000674018.1:c.335T>C | ENSP00000501271.1:p.Ile112Thr | |
| ENST00000674027.1:n.481T>C | ||
| ENST00000674041.1:c.335T>C | ENSP00000500956.1:p.Ile112Thr | |
| ENST00000674052.1:c.554T>C | ENSP00000501057.1:p.Ile185Thr | |
| ENST00000674093.1:c.335T>C | ENSP00000501303.1:p.Ile112Thr | |
| ENST00000674119.1:c.335T>C | ENSP00000501217.1:p.Ile112Thr | |
| ENST00000674135.1:c.512T>C | ENSP00000501178.1:p.Ile171Thr | |
| ENST00000674139.1:c.335T>C | ENSP00000501054.1:p.Ile112Thr | |
| ENST00000674146.1:c.335T>C | ENSP00000501175.1:p.Ile112Thr | |
| ENST00000674149.1:c.335T>C | ENSP00000501112.1:p.Ile112Thr | |
| ENST00000318023.11:c.2186T>C | ENSP00000326281.8:p.Ile729Thr | |
| ENST00000337571.8:c.335T>C | ENSP00000336840.4:p.Ile112Thr | |
| ENST00000349748.7:c.2054T>C | ENSP00000183936.4:p.Ile685Thr | |
| ENST00000356316.7:c.335T>C | ENSP00000348667.4:p.Ile112Thr | |
| ENST00000357568.7:c.2312T>C | ENSP00000350181.3:p.Ile771Thr | |
| ENST00000397163.7:c.2330T>C | ENSP00000380349.3:p.Ile777Thr | |
| ENST00000397200.8:c.794T>C | ENSP00000380384.4:p.Ile265Thr | |
| ENST00000397204.8:c.335T>C | ENSP00000380387.4:p.Ile112Thr | |
| ENST00000466222.6:n.1253T>C | ||
| ENST00000561817.5:c.335T>C | ENSP00000456575.1:p.Ile112Thr | |
| ENST00000562199.1:n.334T>C | ||
| ENST00000564503.5:c.373T>C | ||
| ENST00000565274.5:c.508T>C | ENSP00000457759.1:n.508T>C | |
| ENST00000567817.5:c.146T>C | ENSP00000456514.1:p.Ile49Thr | |
| ENST00000568153.1:c.67T>C | ||
| ENST00000569136.5:c.335T>C | ENSP00000455254.1:p.Ile112Thr | |
| ENST00000569827.5:c.662T>C | ENSP00000454379.1:p.Ile221Thr | |
| NM_000070.2:c.2330T>C | NP_000061.1:p.Ile777Thr | |
| NM_024344.1:c.2312T>C | NP_077320.1:p.Ile771Thr | |
| NM_173087.1:c.2054T>C | NP_775110.1:p.Ile685Thr | |
| NM_173088.1:c.794T>C | NP_775111.1:p.Ile265Thr | |
| NM_173089.1:c.335T>C | NP_775112.1:p.Ile112Thr | |
| NM_173090.1:c.335T>C | NP_775113.1:p.Ile112Thr | |
| NM_000070.3:c.2330T>C MANE Select | NP_000061.1:p.Ile777Thr | |
| NM_024344.2:c.2312T>C | NP_077320.1:p.Ile771Thr | |
| NM_173087.2:c.2054T>C | NP_775110.1:p.Ile685Thr | |
| NM_173088.2:c.794T>C | NP_775111.1:p.Ile265Thr | |
| NM_173089.2:c.335T>C | NP_775112.1:p.Ile112Thr | |
| NM_173090.2:c.335T>C | NP_775113.1:p.Ile112Thr |