Linked Data
ClinVar Variation Id:
198319
dbSNP Id:
rs753594128
ExAC:
X:31341741 C / T
gnomAD v2:
X-31341741-C-T
gnomAD v3:
X-31323624-C-T
gnomAD v4:
X-31323624-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31323624C>T , CM000685.2:g.31323624C>T | GRCh38 |
| NC_000023.10:g.31341741C>T , CM000685.1:g.31341741C>T | GRCh37 |
| NC_000023.9:g.31251662C>T | NCBI36 |
| NG_012232.1:g.2020986G>A , LRG_199:g.2020986G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.4044G>A | ENSP00000350765.3:p.Ser1348= | |
| ENST00000682238.1:c.1818G>A | ENSP00000508124.1:p.Ser606= | |
| ENST00000683675.1:n.297G>A | ||
| ENST00000683957.1:n.2690G>A | ||
| ENST00000684130.1:c.1818G>A | ENSP00000508037.1:p.Ser606= | |
| ENST00000343523.7:c.1053G>A | ENSP00000340057.4:p.Ser351= | |
| ENST00000357033.9:c.9198G>A MANE Select | ENSP00000354923.3:p.Ser3066= | |
| ENST00000619831.5:c.5166G>A | ENSP00000479270.2:p.Ser1722= | |
| ENST00000620040.5:c.1818G>A | ENSP00000478150.2:p.Ser606= | |
| ENST00000680961.1:c.1818G>A | ENSP00000506386.1:p.Ser606= | |
| ENST00000681646.1:n.2859G>A | ||
| ENST00000343523.6:c.1011G>A | ENSP00000340057.3:p.Ser337= | |
| ENST00000357033.8:c.9198G>A | ENSP00000354923.3:p.Ser3066= | |
| ENST00000358062.6:c.2286G>A | ENSP00000350765.2:p.Ser762= | |
| ENST00000359836.5:c.1818G>A | ENSP00000352894.1:p.Ser606= | |
| ENST00000378677.6:c.9186G>A | ENSP00000367948.2:p.Ser3062= | |
| ENST00000378707.7:c.1818G>A | ENSP00000367979.3:p.Ser606= | |
| ENST00000469142.1:n.217G>A | ||
| ENST00000474231.5:c.1818G>A | ENSP00000417123.1:p.Ser606= | |
| ENST00000541735.5:c.1818G>A | ENSP00000444119.1:p.Ser606= | |
| ENST00000619831.4:c.9183G>A | ENSP00000479270.1:p.Ser3061= | |
| ENST00000620040.4:c.9195G>A | ENSP00000478150.1:p.Ser3065= | |
| ENST00000634315.1:n.7G>A | ||
| NM_000109.3:c.9174G>A | NP_000100.2:p.Ser3058= | |
| NM_004006.2:c.9198G>A , LRG_199t1:c.9198G>A | NP_003997.1:p.Ser3066= | |
| NM_004009.3:c.9186G>A | NP_004000.1:p.Ser3062= | |
| NM_004010.3:c.8829G>A | NP_004001.1:p.Ser2943= | |
| NM_004011.3:c.5175G>A | NP_004002.2:p.Ser1725= | |
| NM_004012.3:c.5166G>A | NP_004003.1:p.Ser1722= | |
| NM_004013.2:c.1818G>A | NP_004004.1:p.Ser606= | |
| NM_004014.2:c.1011G>A | NP_004005.1:p.Ser337= | |
| NM_004020.3:c.1818G>A | NP_004011.2:p.Ser606= | |
| NM_004021.2:c.1818G>A | NP_004012.1:p.Ser606= | |
| NM_004022.2:c.1818G>A | NP_004013.1:p.Ser606= | |
| NM_004023.2:c.1818G>A | NP_004014.1:p.Ser606= | |
| XM_006724468.2:c.9198G>A | XP_006724531.1:p.Ser3066= | |
| XM_006724469.2:c.9174G>A | XP_006724532.1:p.Ser3058= | |
| XM_006724470.2:c.9198G>A | XP_006724533.1:p.Ser3066= | |
| XM_006724471.2:c.9198G>A | XP_006724534.1:p.Ser3066= | |
| XM_006724472.2:c.9069G>A | XP_006724535.1:p.Ser3023= | |
| XM_006724473.2:c.9060G>A | XP_006724536.1:p.Ser3020= | |
| XM_006724474.2:c.9198G>A | XP_006724537.1:p.Ser3066= | |
| XM_006724475.2:c.9198G>A | XP_006724538.1:p.Ser3066= | |
| XM_011545467.1:c.9075G>A | XP_011543769.1:p.Ser3025= | |
| XM_011545468.1:c.9198G>A | XP_011543770.1:p.Ser3066= | |
| XM_006724469.3:c.9174G>A | XP_006724532.1:p.Ser3058= | |
| XM_006724470.3:c.9198G>A | XP_006724533.1:p.Ser3066= | |
| XM_006724474.3:c.9198G>A | XP_006724537.1:p.Ser3066= | |
| XM_011545468.2:c.9198G>A | XP_011543770.1:p.Ser3066= | |
| XM_017029328.1:c.9198G>A | XP_016884817.1:p.Ser3066= | |
| XM_017029331.1:c.3372G>A | XP_016884820.1:p.Ser1124= | |
| NM_000109.4:c.9174G>A | NP_000100.3:p.Ser3058= | |
| NM_004006.3:c.9198G>A MANE Select | NP_003997.2:p.Ser3066= | |
| NM_004011.4:c.5175G>A | NP_004002.3:p.Ser1725= | |
| NM_004012.4:c.5166G>A | NP_004003.2:p.Ser1722= | |
| NM_004021.3:c.1818G>A | NP_004012.2:p.Ser606= | |
| NM_004023.3:c.1818G>A | NP_004014.2:p.Ser606= | |
| NM_004013.3:c.1818G>A | NP_004004.2:p.Ser606= | |
| NM_004014.3:c.1011G>A | NP_004005.2:p.Ser337= | |
| NM_004020.4:c.1818G>A | NP_004011.3:p.Ser606= | |
| NM_004022.3:c.1818G>A | NP_004013.2:p.Ser606= |