Linked Data
ClinVar Variation Id:
94764
dbSNP Id:
rs201919981
ExAC:
X:31792296 A / G
gnomAD v2:
X-31792296-A-G
gnomAD v3:
X-31774179-A-G
gnomAD v4:
X-31774179-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31774179A>G , CM000685.2:g.31774179A>G | GRCh38 |
| NC_000023.10:g.31792296A>G , CM000685.1:g.31792296A>G | GRCh37 |
| NC_000023.9:g.31702217A>G | NCBI36 |
| NG_012232.1:g.1570431T>C , LRG_199:g.1570431T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2169T>C | ENSP00000350765.3:p.Thr723= | |
| ENST00000682238.1:c.-58T>C | ENSP00000508124.1:n.-58T>C | |
| ENST00000683117.1:n.984T>C | ||
| ENST00000683450.1:n.906T>C | ||
| ENST00000683851.1:n.984T>C | ||
| ENST00000683957.1:n.815T>C | ||
| ENST00000684130.1:c.-58T>C | ENSP00000508037.1:n.-58T>C | |
| ENST00000357033.9:c.7323T>C MANE Select | ENSP00000354923.3:p.Thr2441= | |
| ENST00000619831.5:c.3291T>C | ENSP00000479270.2:p.Thr1097= | |
| ENST00000620040.5:c.-58T>C | ENSP00000478150.2:n.-58T>C | |
| ENST00000680961.1:c.-58T>C | ENSP00000506386.1:n.-58T>C | |
| ENST00000681646.1:n.984T>C | ||
| ENST00000681839.1:c.312T>C | ENSP00000505228.1:p.Thr104= | |
| ENST00000357033.8:c.7323T>C | ENSP00000354923.3:p.Thr2441= | |
| ENST00000358062.6:c.411T>C | ENSP00000350765.2:p.Thr137= | |
| ENST00000359836.5:c.-58T>C | ENSP00000352894.1:n.-58T>C | |
| ENST00000378677.6:c.7311T>C | ENSP00000367948.2:p.Thr2437= | |
| ENST00000378707.7:c.-58T>C | ENSP00000367979.3:n.-58T>C | |
| ENST00000471779.1:c.80T>C | ENSP00000417075.1:p.Leu27Pro | |
| ENST00000474231.5:c.-58T>C | ENSP00000417123.1:n.-58T>C | |
| ENST00000541735.5:c.-58T>C | ENSP00000444119.1:n.-58T>C | |
| ENST00000619831.4:c.7308T>C | ENSP00000479270.1:p.Thr2436= | |
| ENST00000620040.4:c.7320T>C | ENSP00000478150.1:p.Thr2440= | |
| NM_000109.3:c.7299T>C | NP_000100.2:p.Thr2433= | |
| NM_004006.2:c.7323T>C , LRG_199t1:c.7323T>C | NP_003997.1:p.Thr2441= | |
| NM_004009.3:c.7311T>C | NP_004000.1:p.Thr2437= | |
| NM_004010.3:c.6954T>C | NP_004001.1:p.Thr2318= | |
| NM_004011.3:c.3300T>C | NP_004002.2:p.Thr1100= | |
| NM_004012.3:c.3291T>C | NP_004003.1:p.Thr1097= | |
| NM_004013.2:c.-58T>C | NP_004004.1:n.-58T>C | |
| NM_004020.3:c.-58T>C | NP_004011.2:n.-58T>C | |
| NM_004021.2:c.-58T>C | NP_004012.1:n.-58T>C | |
| NM_004022.2:c.-58T>C | NP_004013.1:n.-58T>C | |
| NM_004023.2:c.-58T>C | NP_004014.1:n.-58T>C | |
| XM_006724468.2:c.7323T>C | XP_006724531.1:p.Thr2441= | |
| XM_006724469.2:c.7299T>C | XP_006724532.1:p.Thr2433= | |
| XM_006724470.2:c.7323T>C | XP_006724533.1:p.Thr2441= | |
| XM_006724471.2:c.7323T>C | XP_006724534.1:p.Thr2441= | |
| XM_006724472.2:c.7194T>C | XP_006724535.1:p.Thr2398= | |
| XM_006724473.2:c.7185T>C | XP_006724536.1:p.Thr2395= | |
| XM_006724474.2:c.7323T>C | XP_006724537.1:p.Thr2441= | |
| XM_006724475.2:c.7323T>C | XP_006724538.1:p.Thr2441= | |
| XM_011545467.1:c.7200T>C | XP_011543769.1:p.Thr2400= | |
| XM_011545468.1:c.7323T>C | XP_011543770.1:p.Thr2441= | |
| XM_006724469.3:c.7299T>C | XP_006724532.1:p.Thr2433= | |
| XM_006724470.3:c.7323T>C | XP_006724533.1:p.Thr2441= | |
| XM_006724474.3:c.7323T>C | XP_006724537.1:p.Thr2441= | |
| XM_011545468.2:c.7323T>C | XP_011543770.1:p.Thr2441= | |
| XM_017029328.1:c.7323T>C | XP_016884817.1:p.Thr2441= | |
| XM_017029331.1:c.1497T>C | XP_016884820.1:p.Thr499= | |
| NM_000109.4:c.7299T>C | NP_000100.3:p.Thr2433= | |
| NM_004006.3:c.7323T>C MANE Select | NP_003997.2:p.Thr2441= | |
| NM_004011.4:c.3300T>C | NP_004002.3:p.Thr1100= | |
| NM_004012.4:c.3291T>C | NP_004003.2:p.Thr1097= | |
| NM_004021.3:c.-58T>C | NP_004012.2:n.-58T>C | |
| NM_004023.3:c.-58T>C | NP_004014.2:n.-58T>C | |
| NM_004013.3:c.-58T>C | NP_004004.2:n.-58T>C | |
| NM_004020.4:c.-58T>C | NP_004011.3:n.-58T>C | |
| NM_004022.3:c.-58T>C | NP_004013.2:n.-58T>C |