Linked Data
ClinVar Variation Id:
265484
dbSNP Id:
rs144809928
ExAC:
9:98997830 G / A
gnomAD v2:
9-98997830-G-A
gnomAD v3:
9-96235548-G-A
gnomAD v4:
9-96235548-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235548G>A , CM000671.2:g.96235548G>A | GRCh38 |
| NC_000009.11:g.98997830G>A , CM000671.1:g.98997830G>A | GRCh37 |
| NC_000009.10:g.98037651G>A | NCBI36 |
| NG_008157.1:g.71605C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375262.4:c.695C>T | ENSP00000364411.2:p.Pro232Leu | |
| ENST00000375263.8:c.845C>T MANE Select | ENSP00000364412.3:p.Pro282Leu | |
| ENST00000463517.2:n.2387C>T | ||
| ENST00000464104.6:n.1783C>T | ||
| ENST00000467499.6:c.*544C>T | ENSP00000498077.1:n.*544C>T | |
| ENST00000494814.6:n.395C>T | ||
| ENST00000643789.1:c.3137C>T | ||
| ENST00000648146.1:c.983C>T | ENSP00000497238.1:n.983C>T | |
| ENST00000648332.1:c.522C>T | ENSP00000497562.1:n.522C>T | |
| ENST00000648799.1:c.737C>T | ||
| ENST00000650005.1:c.774C>T | ENSP00000498121.1:n.774C>T | |
| ENST00000375262.3:c.695C>T | ENSP00000364411.2:p.Pro232Leu | |
| ENST00000375263.7:c.845C>T | ENSP00000364412.3:p.Pro282Leu | |
| ENST00000464104.5:n.698C>T | ||
| ENST00000467499.5:n.105C>T | ||
| ENST00000494814.5:n.404C>T | ||
| NM_000197.1:c.845C>T | NP_000188.1:p.Pro282Leu | |
| XM_005251970.3:c.485C>T | XP_005252027.1:p.Pro162Leu | |
| XM_011518618.1:c.845C>T | XP_011516920.1:p.Pro282Leu | |
| XM_011518619.1:c.845C>T | XP_011516921.1:p.Pro282Leu | |
| XM_011518620.1:c.737C>T | XP_011516922.1:p.Pro246Leu | |
| NM_000197.2:c.845C>T MANE Select | NP_000188.1:p.Pro282Leu | |
| XM_011518618.2:c.845C>T | XP_011516920.1:p.Pro282Leu | |
| XM_011518619.2:c.845C>T | XP_011516921.1:p.Pro282Leu | |
| XM_017014671.1:c.845C>T | XP_016870160.1:p.Pro282Leu | |
| XM_017014672.1:c.845C>T | XP_016870161.1:p.Pro282Leu | |
| XM_017014673.2:c.809C>T | XP_016870162.1:p.Pro270Leu | |
| XM_017014674.1:c.737C>T | XP_016870163.1:p.Pro246Leu | |
| XM_017014675.1:c.683C>T | XP_016870164.1:p.Pro228Leu | |
| XM_017014677.1:c.485C>T | XP_016870166.1:p.Pro162Leu | |
| XM_024447529.1:c.683C>T | XP_024303297.1:p.Pro228Leu | |
| XR_002956778.1:n.3317C>T |