Linked Data
ClinVar Variation Id:
4295
ClinVar RCV Id:
RCV000004528
RCV000004529
RCV000004530
RCV000004531
RCV000020151
RCV000079343
RCV000762852
RCV001004110
RCV004018558
dbSNP Id:
rs80356771
ExAC:
1:155204987 G / A
gnomAD v2:
1-155204987-G-A
gnomAD v3:
1-155235196-G-A
gnomAD v4:
1-155235196-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155235196G>A , CM000663.2:g.155235196G>A | GRCh38 |
| NC_000001.10:g.155204987G>A , CM000663.1:g.155204987G>A | GRCh37 |
| NC_000001.9:g.153471611G>A | NCBI36 |
| NG_009783.1:g.14502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368373.8:c.1504C>T MANE Select | ENSP00000357357.3:p.Arg502Cys | |
| ENST00000327247.9:c.1504C>T | ENSP00000314508.5:p.Arg502Cys | |
| ENST00000368373.7:c.1504C>T | ENSP00000357357.3:p.Arg502Cys | |
| ENST00000427500.7:c.1357C>T | ENSP00000402577.2:p.Arg453Cys | |
| ENST00000428024.3:c.1243C>T | ENSP00000397986.2:p.Arg415Cys | |
| ENST00000464536.1:n.191-375C>T | ||
| ENST00000478472.1:n.864C>T | ||
| ENST00000484489.5:n.663C>T | ||
| NM_000157.3:c.1504C>T | NP_000148.2:p.Arg502Cys | |
| NM_001005741.2:c.1504C>T | NP_001005741.1:p.Arg502Cys | |
| NM_001005742.2:c.1504C>T | NP_001005742.1:p.Arg502Cys | |
| NM_001171811.1:c.1243C>T | NP_001165282.1:p.Arg415Cys | |
| NM_001171812.1:c.1357C>T | NP_001165283.1:p.Arg453Cys | |
| XM_006711270.1:c.1504C>T | XP_006711333.1:p.Arg502Cys | |
| XM_011509407.1:c.1504C>T | XP_011507709.1:p.Arg502Cys | |
| NM_000157.4:c.1504C>T MANE Select | NP_000148.2:p.Arg502Cys | |
| NM_001005741.3:c.1504C>T | NP_001005741.1:p.Arg502Cys | |
| NM_001005742.3:c.1504C>T | NP_001005742.1:p.Arg502Cys | |
| NM_001171811.2:c.1243C>T | NP_001165282.1:p.Arg415Cys | |
| NM_001171812.2:c.1357C>T | NP_001165283.1:p.Arg453Cys |