Linked Data
ClinVar Variation Id:
287996
dbSNP Id:
rs143719666
ExAC:
X:32383311 A / C
gnomAD v2:
X-32383311-A-C
gnomAD v3:
X-32365194-A-C
gnomAD v4:
X-32365194-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32365194A>C , CM000685.2:g.32365194A>C | GRCh38 |
| NC_000023.10:g.32383311A>C , CM000685.1:g.32383311A>C | GRCh37 |
| NC_000023.9:g.32293232A>C | NCBI36 |
| NG_012232.1:g.979416T>G , LRG_199:g.979416T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357033.9:c.4851T>G MANE Select | ENSP00000354923.3:p.Thr1617= | |
| ENST00000619831.5:c.819T>G | ENSP00000479270.2:p.Thr273= | |
| ENST00000357033.8:c.4851T>G | ENSP00000354923.3:p.Thr1617= | |
| ENST00000378677.6:c.4839T>G | ENSP00000367948.2:p.Thr1613= | |
| ENST00000420596.5:c.99T>G | ENSP00000399897.1:p.Thr33= | |
| ENST00000448370.5:c.94-484T>G | ENSP00000388559.1:n.94-484T>G | |
| ENST00000488902.5:n.336-148131T>G | ||
| ENST00000619831.4:c.4839T>G | ENSP00000479270.1:p.Thr1613= | |
| ENST00000620040.4:c.4851T>G | ENSP00000478150.1:p.Thr1617= | |
| NM_000109.3:c.4827T>G | NP_000100.2:p.Thr1609= | |
| NM_004006.2:c.4851T>G , LRG_199t1:c.4851T>G | NP_003997.1:p.Thr1617= | |
| NM_004009.3:c.4839T>G | NP_004000.1:p.Thr1613= | |
| NM_004010.3:c.4482T>G | NP_004001.1:p.Thr1494= | |
| NM_004011.3:c.828T>G | NP_004002.2:p.Thr276= | |
| NM_004012.3:c.819T>G | NP_004003.1:p.Thr273= | |
| XM_006724468.2:c.4851T>G | XP_006724531.1:p.Thr1617= | |
| XM_006724469.2:c.4827T>G | XP_006724532.1:p.Thr1609= | |
| XM_006724470.2:c.4851T>G | XP_006724533.1:p.Thr1617= | |
| XM_006724471.2:c.4851T>G | XP_006724534.1:p.Thr1617= | |
| XM_006724472.2:c.4722T>G | XP_006724535.1:p.Thr1574= | |
| XM_006724473.2:c.4851T>G | XP_006724536.1:p.Thr1617= | |
| XM_006724474.2:c.4851T>G | XP_006724537.1:p.Thr1617= | |
| XM_006724475.2:c.4851T>G | XP_006724538.1:p.Thr1617= | |
| XM_011545467.1:c.4851T>G | XP_011543769.1:p.Thr1617= | |
| XM_011545468.1:c.4851T>G | XP_011543770.1:p.Thr1617= | |
| XM_011545469.1:c.4851T>G | XP_011543771.1:p.Thr1617= | |
| XM_006724469.3:c.4827T>G | XP_006724532.1:p.Thr1609= | |
| XM_006724470.3:c.4851T>G | XP_006724533.1:p.Thr1617= | |
| XM_006724474.3:c.4851T>G | XP_006724537.1:p.Thr1617= | |
| XM_011545468.2:c.4851T>G | XP_011543770.1:p.Thr1617= | |
| XM_017029328.1:c.4851T>G | XP_016884817.1:p.Thr1617= | |
| XM_017029329.1:c.4851T>G | XP_016884818.1:p.Thr1617= | |
| XM_017029330.2:c.4851T>G | XP_016884819.1:p.Thr1617= | |
| NM_000109.4:c.4827T>G | NP_000100.3:p.Thr1609= | |
| NM_004006.3:c.4851T>G MANE Select | NP_003997.2:p.Thr1617= | |
| NM_004011.4:c.828T>G | NP_004002.3:p.Thr276= | |
| NM_004012.4:c.819T>G | NP_004003.2:p.Thr273= |