Linked Data
ClinVar Variation Id:
698184
ClinVar RCV Id:
RCV000865467
dbSNP Id:
rs200558104
ExAC:
X:152858048 G / A
gnomAD v2:
X-152858048-G-A
gnomAD v3:
X-153592590-G-A
gnomAD v4:
X-153592590-G-A
COSMIC:
COSM5485141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153592590G>A , CM000685.2:g.153592590G>A | GRCh38 |
| NC_000023.10:g.152858048G>A , CM000685.1:g.152858048G>A | GRCh37 |
| NC_000023.9:g.152511242G>A | NCBI36 |
| NG_008393.2:g.11588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576892.8:c.573C>T MANE Select | ENSP00000461135.1:p.Ile191= | |
| ENST00000429336.5:c.193+1957C>T | ||
| ENST00000440428.5:c.573C>T | ENSP00000402949.2:p.Ile191= | |
| ENST00000576892.7:c.573C>T | ENSP00000461135.1:p.Ile191= | |
| ENST00000614850.1:c.277+3414C>T | ||
| ENST00000614851.4:c.394C>T | ||
| ENST00000620088.4:c.*449C>T | ENSP00000484108.1:n.*449C>T | |
| ENST00000621629.4:c.*449C>T | ENSP00000478747.1:n.*449C>T | |
| ENST00000621817.1:c.*738C>T | ENSP00000481634.1:n.*738C>T | |
| NM_001130997.2:c.573C>T | NP_001124469.1:p.Ile191= | |
| NM_152274.4:c.573C>T | NP_689487.2:p.Ile191= | |
| XM_005277920.3:c.543C>T | XP_005277977.1:p.Ile181= | |
| XM_005277921.3:c.543C>T | XP_005277978.1:p.Ile181= | |
| XM_011531213.1:c.447C>T | XP_011529515.1:p.Ile149= | |
| XM_011531214.1:c.447C>T | XP_011529516.1:p.Ile149= | |
| XM_011531215.1:c.447C>T | XP_011529517.1:p.Ile149= | |
| XM_005277920.4:c.543C>T | XP_005277977.1:p.Ile181= | |
| XM_005277921.4:c.543C>T | XP_005277978.1:p.Ile181= | |
| XM_011531214.2:c.447C>T | XP_011529516.1:p.Ile149= | |
| XM_011531215.2:c.447C>T | XP_011529517.1:p.Ile149= | |
| XR_002958810.1:n.2478C>T | ||
| NM_152274.5:c.573C>T MANE Select | NP_689487.2:p.Ile191= | |
| NM_001130997.3:c.573C>T | NP_001124469.1:p.Ile191= |