Linked Data
ClinVar Variation Id:
1962897
ClinVar RCV Id:
RCV002710756
dbSNP Id:
rs753426129
gnomAD v2:
X-32305781-A-G
gnomAD v4:
X-32287664-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32287664A>G , CM000685.2:g.32287664A>G | GRCh38 |
| NC_000023.10:g.32305781A>G , CM000685.1:g.32305781A>G | GRCh37 |
| NC_000023.9:g.32215702A>G | NCBI36 |
| NG_012232.1:g.1056946T>C , LRG_199:g.1056946T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.1001T>C | ENSP00000350765.3:p.Ile334Thr | |
| ENST00000357033.9:c.6155T>C MANE Select | ENSP00000354923.3:p.Ile2052Thr | |
| ENST00000619831.5:c.2123T>C | ENSP00000479270.2:p.Ile708Thr | |
| ENST00000357033.8:c.6155T>C | ENSP00000354923.3:p.Ile2052Thr | |
| ENST00000378677.6:c.6143T>C | ENSP00000367948.2:p.Ile2048Thr | |
| ENST00000488902.5:n.336-70601T>C | ||
| ENST00000619831.4:c.6143T>C | ENSP00000479270.1:p.Ile2048Thr | |
| ENST00000620040.4:c.6155T>C | ENSP00000478150.1:p.Ile2052Thr | |
| NM_000109.3:c.6131T>C | NP_000100.2:p.Ile2044Thr | |
| NM_004006.2:c.6155T>C , LRG_199t1:c.6155T>C | NP_003997.1:p.Ile2052Thr | |
| NM_004009.3:c.6143T>C | NP_004000.1:p.Ile2048Thr | |
| NM_004010.3:c.5786T>C | NP_004001.1:p.Ile1929Thr | |
| NM_004011.3:c.2132T>C | NP_004002.2:p.Ile711Thr | |
| NM_004012.3:c.2123T>C | NP_004003.1:p.Ile708Thr | |
| XM_006724468.2:c.6155T>C | XP_006724531.1:p.Ile2052Thr | |
| XM_006724469.2:c.6131T>C | XP_006724532.1:p.Ile2044Thr | |
| XM_006724470.2:c.6155T>C | XP_006724533.1:p.Ile2052Thr | |
| XM_006724471.2:c.6155T>C | XP_006724534.1:p.Ile2052Thr | |
| XM_006724472.2:c.6026T>C | XP_006724535.1:p.Ile2009Thr | |
| XM_006724473.2:c.6017T>C | XP_006724536.1:p.Ile2006Thr | |
| XM_006724474.2:c.6155T>C | XP_006724537.1:p.Ile2052Thr | |
| XM_006724475.2:c.6155T>C | XP_006724538.1:p.Ile2052Thr | |
| XM_011545467.1:c.6032T>C | XP_011543769.1:p.Ile2011Thr | |
| XM_011545468.1:c.6155T>C | XP_011543770.1:p.Ile2052Thr | |
| XM_006724469.3:c.6131T>C | XP_006724532.1:p.Ile2044Thr | |
| XM_006724470.3:c.6155T>C | XP_006724533.1:p.Ile2052Thr | |
| XM_006724474.3:c.6155T>C | XP_006724537.1:p.Ile2052Thr | |
| XM_011545468.2:c.6155T>C | XP_011543770.1:p.Ile2052Thr | |
| XM_017029328.1:c.6155T>C | XP_016884817.1:p.Ile2052Thr | |
| XM_017029329.1:c.6155T>C | XP_016884818.1:p.Ile2052Thr | |
| XM_017029330.2:c.6155T>C | XP_016884819.1:p.Ile2052Thr | |
| XM_017029331.1:c.329T>C | XP_016884820.1:p.Ile110Thr | |
| NM_000109.4:c.6131T>C | NP_000100.3:p.Ile2044Thr | |
| NM_004006.3:c.6155T>C MANE Select | NP_003997.2:p.Ile2052Thr | |
| NM_004011.4:c.2132T>C | NP_004002.3:p.Ile711Thr | |
| NM_004012.4:c.2123T>C | NP_004003.2:p.Ile708Thr |