Linked Data
ClinVar Variation Id:
242504
ClinVar RCV Id:
RCV000198988
dbSNP Id:
rs747329682
ExAC:
9:99060705 G / A
gnomAD v2:
9-99060705-G-A
gnomAD v4:
9-96298423-G-A
COSMIC:
COSM1111591
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96298423G>A , CM000671.2:g.96298423G>A | GRCh38 |
| NC_000009.11:g.99060705G>A , CM000671.1:g.99060705G>A | GRCh37 |
| NC_000009.10:g.98100526G>A | NCBI36 |
| NG_008157.1:g.8730C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375262.4:c.194C>T | ENSP00000364411.2:p.Ser65Leu | |
| ENST00000375263.8:c.194C>T MANE Select | ENSP00000364412.3:p.Ser65Leu | |
| ENST00000463517.2:n.1003C>T | ||
| ENST00000464104.6:n.664C>T | ||
| ENST00000467499.6:c.194C>T | ENSP00000498077.1:p.Ser65Leu | |
| ENST00000643789.1:c.2486C>T | ||
| ENST00000648146.1:c.194C>T | ENSP00000497238.1:p.Ser65Leu | |
| ENST00000648332.1:c.194C>T | ENSP00000497562.1:p.Ser65Leu | |
| ENST00000648799.1:c.194C>T | ENSP00000498039.1:p.Ser65Leu | |
| ENST00000650005.1:c.194C>T | ENSP00000498121.1:p.Ser65Leu | |
| ENST00000650386.1:c.194C>T | ENSP00000497464.1:p.Ser65Leu | |
| ENST00000375262.3:c.194C>T | ENSP00000364411.2:p.Ser65Leu | |
| ENST00000375263.7:c.194C>T | ENSP00000364412.3:p.Ser65Leu | |
| NM_000197.1:c.194C>T | NP_000188.1:p.Ser65Leu | |
| XM_006717095.2:c.194C>T | XP_006717158.1:p.Ser65Leu | |
| XM_011518618.1:c.194C>T | XP_011516920.1:p.Ser65Leu | |
| XM_011518619.1:c.194C>T | XP_011516921.1:p.Ser65Leu | |
| XM_011518620.1:c.194C>T | XP_011516922.1:p.Ser65Leu | |
| XM_011518621.1:c.194C>T | XP_011516923.1:p.Ser65Leu | |
| NM_000197.2:c.194C>T MANE Select | NP_000188.1:p.Ser65Leu | |
| XM_011518618.2:c.194C>T | XP_011516920.1:p.Ser65Leu | |
| XM_011518619.2:c.194C>T | XP_011516921.1:p.Ser65Leu | |
| XM_017014671.1:c.194C>T | XP_016870160.1:p.Ser65Leu | |
| XM_017014672.1:c.194C>T | XP_016870161.1:p.Ser65Leu | |
| XM_017014673.2:c.194C>T | XP_016870162.1:p.Ser65Leu | |
| XM_017014674.1:c.194C>T | XP_016870163.1:p.Ser65Leu | |
| XM_017014675.1:c.108C>T | XP_016870164.1:p.Leu36= | |
| XM_017014677.1:c.-743C>T | XP_016870166.1:n.-743C>T | |
| XM_024447529.1:c.108C>T | XP_024303297.1:p.Leu36= | |
| XR_002956778.1:n.2628C>T |