Linked Data
ClinVar Variation Id:
4872
ClinVar RCV Id:
RCV002512796
dbSNP Id:
rs28939085
ExAC:
9:99003167 G / A
gnomAD v2:
9-99003167-G-A
gnomAD v3:
9-96240885-G-A
gnomAD v4:
9-96240885-G-A
PubMed:
PMID:8075637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96240885G>A , CM000671.2:g.96240885G>A | GRCh38 |
| NC_000009.11:g.99003167G>A , CM000671.1:g.99003167G>A | GRCh37 |
| NC_000009.10:g.98042988G>A | NCBI36 |
| NG_008157.1:g.66268C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375262.4:c.672+3444C>T | ENSP00000364411.2:n.672+3444C>T | |
| ENST00000375263.8:c.695C>T MANE Select | ENSP00000364412.3:p.Ser232Leu | |
| ENST00000463517.2:n.2237C>T | ||
| ENST00000464104.6:n.1633C>T | ||
| ENST00000467499.6:c.*394C>T | ENSP00000498077.1:n.*394C>T | |
| ENST00000484816.2:n.46C>T | ||
| ENST00000494814.6:n.245C>T | ||
| ENST00000643789.1:c.2987C>T | ||
| ENST00000648146.1:c.695C>T | ENSP00000497238.1:p.Ser232Leu | |
| ENST00000648332.1:c.372C>T | ENSP00000497562.1:n.372C>T | |
| ENST00000648799.1:c.587C>T | ENSP00000498039.1:p.Ser196Leu | |
| ENST00000650005.1:c.624C>T | ENSP00000498121.1:n.624C>T | |
| ENST00000375262.3:c.672+3444C>T | ENSP00000364411.2:n.672+3444C>T | |
| ENST00000375263.7:c.695C>T | ENSP00000364412.3:p.Ser232Leu | |
| ENST00000464104.5:n.548C>T | ||
| ENST00000484816.1:n.45C>T | ||
| ENST00000494814.5:n.254C>T | ||
| NM_000197.1:c.695C>T | NP_000188.1:p.Ser232Leu | |
| XM_005251970.3:c.335C>T | XP_005252027.1:p.Ser112Leu | |
| XM_011518618.1:c.695C>T | XP_011516920.1:p.Ser232Leu | |
| XM_011518619.1:c.695C>T | XP_011516921.1:p.Ser232Leu | |
| XM_011518620.1:c.587C>T | XP_011516922.1:p.Ser196Leu | |
| XM_011518621.1:c.*16C>T | XP_011516923.1:n.*16C>T | |
| NM_000197.2:c.695C>T MANE Select | NP_000188.1:p.Ser232Leu | |
| XM_011518618.2:c.695C>T | XP_011516920.1:p.Ser232Leu | |
| XM_011518619.2:c.695C>T | XP_011516921.1:p.Ser232Leu | |
| XM_017014671.1:c.695C>T | XP_016870160.1:p.Ser232Leu | |
| XM_017014672.1:c.695C>T | XP_016870161.1:p.Ser232Leu | |
| XM_017014673.2:c.659C>T | XP_016870162.1:p.Ser220Leu | |
| XM_017014674.1:c.587C>T | XP_016870163.1:p.Ser196Leu | |
| XM_017014675.1:c.533C>T | XP_016870164.1:p.Ser178Leu | |
| XM_017014677.1:c.335C>T | XP_016870166.1:p.Ser112Leu | |
| XM_024447529.1:c.533C>T | XP_024303297.1:p.Ser178Leu | |
| XR_002956778.1:n.3167C>T |