Linked Data
ClinVar Variation Id:
237759
ClinVar RCV Id:
RCV000227311
RCV000259904
RCV000323277
RCV000380231
RCV000317362
RCV002255324
RCV003311719
RCV004020753
RCV004554756
dbSNP Id:
rs138638329
ExAC:
3:122002553 G / A
gnomAD v2:
3-122002553-G-A
gnomAD v3:
3-122283706-G-A
gnomAD v4:
3-122283706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122283706G>A , CM000665.2:g.122283706G>A | GRCh38 |
| NC_000003.11:g.122002553G>A , CM000665.1:g.122002553G>A | GRCh37 |
| NC_000003.10:g.123485243G>A | NCBI36 |
| NG_009058.1:g.105024G>A | |
| NG_009058.2:g.105039G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.1521G>A | ENSP00000418685.2:p.Lys507= | |
| ENST00000498619.4:c.1782G>A | ENSP00000420194.1:p.Lys594= | |
| ENST00000638421.1:c.1752G>A | ENSP00000492190.1:p.Lys584= | |
| ENST00000639785.2:c.1752G>A MANE Select | ENSP00000491584.2:p.Lys584= | |
| ENST00000490131.5:c.1752G>A | ENSP00000418685.1:p.Lys584= | |
| ENST00000498619.2:c.1782G>A | ENSP00000420194.1:p.Lys594= | |
| NM_000388.3:c.1752G>A | NP_000379.2:p.Lys584= | |
| NM_001178065.1:c.1782G>A | NP_001171536.1:p.Lys594= | |
| XM_005247836.2:c.1752G>A | XP_005247893.1:p.Lys584= | |
| XM_005247837.2:c.1269G>A | XP_005247894.1:p.Lys423= | |
| XM_006713789.2:c.1752G>A | XP_006713852.1:p.Lys584= | |
| XM_011513237.1:c.1752G>A | XP_011511539.1:p.Lys584= | |
| XM_011513238.1:c.1752G>A | XP_011511540.1:p.Lys584= | |
| XM_011513239.1:c.1164G>A | XP_011511541.1:p.Lys388= | |
| XM_006713789.3:c.1752G>A | XP_006713852.1:p.Lys584= | |
| XM_017007324.1:c.1752G>A | XP_016862813.1:p.Lys584= | |
| XM_017007325.1:c.1752G>A | XP_016862814.1:p.Lys584= | |
| NM_000388.4:c.1752G>A MANE Select | NP_000379.3:p.Lys584= | |
| NM_001178065.2:c.1782G>A | NP_001171536.2:p.Lys594= |