Linked Data
ClinVar Variation Id:
284947
ClinVar RCV Id:
RCV000304326
RCV000619872
RCV000725558
RCV001083787
RCV001165704
RCV004543055
RCV001833338
dbSNP Id:
rs112516305
ExAC:
X:31792098 G / A
gnomAD v2:
X-31792098-G-A
gnomAD v3:
X-31773981-G-A
gnomAD v4:
X-31773981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31773981G>A , CM000685.2:g.31773981G>A | GRCh38 |
| NC_000023.10:g.31792098G>A , CM000685.1:g.31792098G>A | GRCh37 |
| NC_000023.9:g.31702019G>A | NCBI36 |
| NG_012232.1:g.1570629C>T , LRG_199:g.1570629C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2367C>T | ENSP00000350765.3:p.Asn789= | |
| ENST00000682238.1:c.141C>T | ENSP00000508124.1:p.Asn47= | |
| ENST00000683117.1:n.1182C>T | ||
| ENST00000683450.1:n.1104C>T | ||
| ENST00000683851.1:n.1182C>T | ||
| ENST00000683957.1:n.1013C>T | ||
| ENST00000684130.1:c.141C>T | ENSP00000508037.1:p.Asn47= | |
| ENST00000357033.9:c.7521C>T MANE Select | ENSP00000354923.3:p.Asn2507= | |
| ENST00000619831.5:c.3489C>T | ENSP00000479270.2:p.Asn1163= | |
| ENST00000620040.5:c.141C>T | ENSP00000478150.2:p.Asn47= | |
| ENST00000680961.1:c.141C>T | ENSP00000506386.1:p.Asn47= | |
| ENST00000681646.1:n.1182C>T | ||
| ENST00000681839.1:c.510C>T | ENSP00000505228.1:p.Asn170= | |
| ENST00000357033.8:c.7521C>T | ENSP00000354923.3:p.Asn2507= | |
| ENST00000358062.6:c.609C>T | ENSP00000350765.2:p.Asn203= | |
| ENST00000359836.5:c.141C>T | ENSP00000352894.1:p.Asn47= | |
| ENST00000378677.6:c.7509C>T | ENSP00000367948.2:p.Asn2503= | |
| ENST00000378707.7:c.141C>T | ENSP00000367979.3:p.Asn47= | |
| ENST00000471779.1:c.278C>T | ENSP00000417075.1:n.278C>T | |
| ENST00000474231.5:c.141C>T | ENSP00000417123.1:p.Asn47= | |
| ENST00000541735.5:c.141C>T | ENSP00000444119.1:p.Asn47= | |
| ENST00000619831.4:c.7506C>T | ENSP00000479270.1:p.Asn2502= | |
| ENST00000620040.4:c.7518C>T | ENSP00000478150.1:p.Asn2506= | |
| NM_000109.3:c.7497C>T | NP_000100.2:p.Asn2499= | |
| NM_004006.2:c.7521C>T , LRG_199t1:c.7521C>T | NP_003997.1:p.Asn2507= | |
| NM_004009.3:c.7509C>T | NP_004000.1:p.Asn2503= | |
| NM_004010.3:c.7152C>T | NP_004001.1:p.Asn2384= | |
| NM_004011.3:c.3498C>T | NP_004002.2:p.Asn1166= | |
| NM_004012.3:c.3489C>T | NP_004003.1:p.Asn1163= | |
| NM_004013.2:c.141C>T | NP_004004.1:p.Asn47= | |
| NM_004020.3:c.141C>T | NP_004011.2:p.Asn47= | |
| NM_004021.2:c.141C>T | NP_004012.1:p.Asn47= | |
| NM_004022.2:c.141C>T | NP_004013.1:p.Asn47= | |
| NM_004023.2:c.141C>T | NP_004014.1:p.Asn47= | |
| XM_006724468.2:c.7521C>T | XP_006724531.1:p.Asn2507= | |
| XM_006724469.2:c.7497C>T | XP_006724532.1:p.Asn2499= | |
| XM_006724470.2:c.7521C>T | XP_006724533.1:p.Asn2507= | |
| XM_006724471.2:c.7521C>T | XP_006724534.1:p.Asn2507= | |
| XM_006724472.2:c.7392C>T | XP_006724535.1:p.Asn2464= | |
| XM_006724473.2:c.7383C>T | XP_006724536.1:p.Asn2461= | |
| XM_006724474.2:c.7521C>T | XP_006724537.1:p.Asn2507= | |
| XM_006724475.2:c.7521C>T | XP_006724538.1:p.Asn2507= | |
| XM_011545467.1:c.7398C>T | XP_011543769.1:p.Asn2466= | |
| XM_011545468.1:c.7521C>T | XP_011543770.1:p.Asn2507= | |
| XM_006724469.3:c.7497C>T | XP_006724532.1:p.Asn2499= | |
| XM_006724470.3:c.7521C>T | XP_006724533.1:p.Asn2507= | |
| XM_006724474.3:c.7521C>T | XP_006724537.1:p.Asn2507= | |
| XM_011545468.2:c.7521C>T | XP_011543770.1:p.Asn2507= | |
| XM_017029328.1:c.7521C>T | XP_016884817.1:p.Asn2507= | |
| XM_017029331.1:c.1695C>T | XP_016884820.1:p.Asn565= | |
| NM_000109.4:c.7497C>T | NP_000100.3:p.Asn2499= | |
| NM_004006.3:c.7521C>T MANE Select | NP_003997.2:p.Asn2507= | |
| NM_004011.4:c.3498C>T | NP_004002.3:p.Asn1166= | |
| NM_004012.4:c.3489C>T | NP_004003.2:p.Asn1163= | |
| NM_004021.3:c.141C>T | NP_004012.2:p.Asn47= | |
| NM_004023.3:c.141C>T | NP_004014.2:p.Asn47= | |
| NM_004013.3:c.141C>T | NP_004004.2:p.Asn47= | |
| NM_004020.4:c.141C>T | NP_004011.3:p.Asn47= | |
| NM_004022.3:c.141C>T | NP_004013.2:p.Asn47= |