Linked Data
ClinVar Variation Id:
447266
dbSNP Id:
rs758633794
ExAC:
X:31645869 T / C
gnomAD v2:
X-31645869-T-C
gnomAD v3:
X-31627752-T-C
gnomAD v4:
X-31627752-T-C
PubMed:
PMID:24558114
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31627752T>C , CM000685.2:g.31627752T>C | GRCh38 |
| NC_000023.10:g.31645869T>C , CM000685.1:g.31645869T>C | GRCh37 |
| NC_000023.9:g.31555790T>C | NCBI36 |
| NG_012232.1:g.1716858A>G , LRG_199:g.1716858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2984A>G | ENSP00000350765.3:p.Asn995Ser | |
| ENST00000682238.1:c.758A>G | ENSP00000508124.1:p.Asn253Ser | |
| ENST00000683450.1:n.1603A>G | ||
| ENST00000683851.1:n.1799A>G | ||
| ENST00000683957.1:n.1630A>G | ||
| ENST00000684130.1:c.758A>G | ENSP00000508037.1:p.Asn253Ser | |
| ENST00000357033.9:c.8138A>G MANE Select | ENSP00000354923.3:p.Asn2713Ser | |
| ENST00000619831.5:c.4106A>G | ENSP00000479270.2:p.Asn1369Ser | |
| ENST00000620040.5:c.758A>G | ENSP00000478150.2:p.Asn253Ser | |
| ENST00000680961.1:c.758A>G | ENSP00000506386.1:p.Asn253Ser | |
| ENST00000681646.1:n.1799A>G | ||
| ENST00000357033.8:c.8138A>G | ENSP00000354923.3:p.Asn2713Ser | |
| ENST00000358062.6:c.1226A>G | ENSP00000350765.2:p.Asn409Ser | |
| ENST00000359836.5:c.758A>G | ENSP00000352894.1:p.Asn253Ser | |
| ENST00000378677.6:c.8126A>G | ENSP00000367948.2:p.Asn2709Ser | |
| ENST00000378707.7:c.758A>G | ENSP00000367979.3:p.Asn253Ser | |
| ENST00000474231.5:c.758A>G | ENSP00000417123.1:p.Asn253Ser | |
| ENST00000541735.5:c.758A>G | ENSP00000444119.1:p.Asn253Ser | |
| ENST00000619831.4:c.8123A>G | ENSP00000479270.1:p.Asn2708Ser | |
| ENST00000620040.4:c.8135A>G | ENSP00000478150.1:p.Asn2712Ser | |
| NM_000109.3:c.8114A>G | NP_000100.2:p.Asn2705Ser | |
| NM_004006.2:c.8138A>G , LRG_199t1:c.8138A>G | NP_003997.1:p.Asn2713Ser | |
| NM_004009.3:c.8126A>G | NP_004000.1:p.Asn2709Ser | |
| NM_004010.3:c.7769A>G | NP_004001.1:p.Asn2590Ser | |
| NM_004011.3:c.4115A>G | NP_004002.2:p.Asn1372Ser | |
| NM_004012.3:c.4106A>G | NP_004003.1:p.Asn1369Ser | |
| NM_004013.2:c.758A>G | NP_004004.1:p.Asn253Ser | |
| NM_004020.3:c.758A>G | NP_004011.2:p.Asn253Ser | |
| NM_004021.2:c.758A>G | NP_004012.1:p.Asn253Ser | |
| NM_004022.2:c.758A>G | NP_004013.1:p.Asn253Ser | |
| NM_004023.2:c.758A>G | NP_004014.1:p.Asn253Ser | |
| XM_006724468.2:c.8138A>G | XP_006724531.1:p.Asn2713Ser | |
| XM_006724469.2:c.8114A>G | XP_006724532.1:p.Asn2705Ser | |
| XM_006724470.2:c.8138A>G | XP_006724533.1:p.Asn2713Ser | |
| XM_006724471.2:c.8138A>G | XP_006724534.1:p.Asn2713Ser | |
| XM_006724472.2:c.8009A>G | XP_006724535.1:p.Asn2670Ser | |
| XM_006724473.2:c.8000A>G | XP_006724536.1:p.Asn2667Ser | |
| XM_006724474.2:c.8138A>G | XP_006724537.1:p.Asn2713Ser | |
| XM_006724475.2:c.8138A>G | XP_006724538.1:p.Asn2713Ser | |
| XM_011545467.1:c.8015A>G | XP_011543769.1:p.Asn2672Ser | |
| XM_011545468.1:c.8138A>G | XP_011543770.1:p.Asn2713Ser | |
| XM_006724469.3:c.8114A>G | XP_006724532.1:p.Asn2705Ser | |
| XM_006724470.3:c.8138A>G | XP_006724533.1:p.Asn2713Ser | |
| XM_006724474.3:c.8138A>G | XP_006724537.1:p.Asn2713Ser | |
| XM_011545468.2:c.8138A>G | XP_011543770.1:p.Asn2713Ser | |
| XM_017029328.1:c.8138A>G | XP_016884817.1:p.Asn2713Ser | |
| XM_017029331.1:c.2312A>G | XP_016884820.1:p.Asn771Ser | |
| NM_000109.4:c.8114A>G | NP_000100.3:p.Asn2705Ser | |
| NM_004006.3:c.8138A>G MANE Select | NP_003997.2:p.Asn2713Ser | |
| NM_004011.4:c.4115A>G | NP_004002.3:p.Asn1372Ser | |
| NM_004012.4:c.4106A>G | NP_004003.2:p.Asn1369Ser | |
| NM_004021.3:c.758A>G | NP_004012.2:p.Asn253Ser | |
| NM_004023.3:c.758A>G | NP_004014.2:p.Asn253Ser | |
| NM_004013.3:c.758A>G | NP_004004.2:p.Asn253Ser | |
| NM_004020.4:c.758A>G | NP_004011.3:p.Asn253Ser | |
| NM_004022.3:c.758A>G | NP_004013.2:p.Asn253Ser |