Linked Data
ClinVar Variation Id:
281826
dbSNP Id:
rs142236825
ExAC:
X:31747830 C / T
gnomAD v2:
X-31747830-C-T
gnomAD v3:
X-31729713-C-T
gnomAD v4:
X-31729713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31729713C>T , CM000685.2:g.31729713C>T | GRCh38 |
| NC_000023.10:g.31747830C>T , CM000685.1:g.31747830C>T | GRCh37 |
| NC_000023.9:g.31657751C>T | NCBI36 |
| NG_012232.1:g.1614897G>A , LRG_199:g.1614897G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2424G>A | ENSP00000350765.3:p.Gln808= | |
| ENST00000682238.1:c.198G>A | ENSP00000508124.1:p.Gln66= | |
| ENST00000683117.1:n.1239G>A | ||
| ENST00000683450.1:n.1125+44247G>A | ||
| ENST00000683851.1:n.1239G>A | ||
| ENST00000683957.1:n.1070G>A | ||
| ENST00000684130.1:c.198G>A | ENSP00000508037.1:p.Gln66= | |
| ENST00000357033.9:c.7578G>A MANE Select | ENSP00000354923.3:p.Gln2526= | |
| ENST00000619831.5:c.3546G>A | ENSP00000479270.2:p.Gln1182= | |
| ENST00000620040.5:c.198G>A | ENSP00000478150.2:p.Gln66= | |
| ENST00000680961.1:c.198G>A | ENSP00000506386.1:p.Gln66= | |
| ENST00000681646.1:n.1239G>A | ||
| ENST00000681839.1:c.567G>A | ENSP00000505228.1:p.Gln189= | |
| ENST00000357033.8:c.7578G>A | ENSP00000354923.3:p.Gln2526= | |
| ENST00000358062.6:c.666G>A | ENSP00000350765.2:p.Gln222= | |
| ENST00000359836.5:c.198G>A | ENSP00000352894.1:p.Gln66= | |
| ENST00000378677.6:c.7566G>A | ENSP00000367948.2:p.Gln2522= | |
| ENST00000378707.7:c.198G>A | ENSP00000367979.3:p.Gln66= | |
| ENST00000471779.1:c.335G>A | ENSP00000417075.1:n.335G>A | |
| ENST00000474231.5:c.198G>A | ENSP00000417123.1:p.Gln66= | |
| ENST00000541735.5:c.198G>A | ENSP00000444119.1:p.Gln66= | |
| ENST00000619831.4:c.7563G>A | ENSP00000479270.1:p.Gln2521= | |
| ENST00000620040.4:c.7575G>A | ENSP00000478150.1:p.Gln2525= | |
| NM_000109.3:c.7554G>A | NP_000100.2:p.Gln2518= | |
| NM_004006.2:c.7578G>A , LRG_199t1:c.7578G>A | NP_003997.1:p.Gln2526= | |
| NM_004009.3:c.7566G>A | NP_004000.1:p.Gln2522= | |
| NM_004010.3:c.7209G>A | NP_004001.1:p.Gln2403= | |
| NM_004011.3:c.3555G>A | NP_004002.2:p.Gln1185= | |
| NM_004012.3:c.3546G>A | NP_004003.1:p.Gln1182= | |
| NM_004013.2:c.198G>A | NP_004004.1:p.Gln66= | |
| NM_004020.3:c.198G>A | NP_004011.2:p.Gln66= | |
| NM_004021.2:c.198G>A | NP_004012.1:p.Gln66= | |
| NM_004022.2:c.198G>A | NP_004013.1:p.Gln66= | |
| NM_004023.2:c.198G>A | NP_004014.1:p.Gln66= | |
| XM_006724468.2:c.7578G>A | XP_006724531.1:p.Gln2526= | |
| XM_006724469.2:c.7554G>A | XP_006724532.1:p.Gln2518= | |
| XM_006724470.2:c.7578G>A | XP_006724533.1:p.Gln2526= | |
| XM_006724471.2:c.7578G>A | XP_006724534.1:p.Gln2526= | |
| XM_006724472.2:c.7449G>A | XP_006724535.1:p.Gln2483= | |
| XM_006724473.2:c.7440G>A | XP_006724536.1:p.Gln2480= | |
| XM_006724474.2:c.7578G>A | XP_006724537.1:p.Gln2526= | |
| XM_006724475.2:c.7578G>A | XP_006724538.1:p.Gln2526= | |
| XM_011545467.1:c.7455G>A | XP_011543769.1:p.Gln2485= | |
| XM_011545468.1:c.7578G>A | XP_011543770.1:p.Gln2526= | |
| XM_006724469.3:c.7554G>A | XP_006724532.1:p.Gln2518= | |
| XM_006724470.3:c.7578G>A | XP_006724533.1:p.Gln2526= | |
| XM_006724474.3:c.7578G>A | XP_006724537.1:p.Gln2526= | |
| XM_011545468.2:c.7578G>A | XP_011543770.1:p.Gln2526= | |
| XM_017029328.1:c.7578G>A | XP_016884817.1:p.Gln2526= | |
| XM_017029331.1:c.1752G>A | XP_016884820.1:p.Gln584= | |
| NM_000109.4:c.7554G>A | NP_000100.3:p.Gln2518= | |
| NM_004006.3:c.7578G>A MANE Select | NP_003997.2:p.Gln2526= | |
| NM_004011.4:c.3555G>A | NP_004002.3:p.Gln1185= | |
| NM_004012.4:c.3546G>A | NP_004003.2:p.Gln1182= | |
| NM_004021.3:c.198G>A | NP_004012.2:p.Gln66= | |
| NM_004023.3:c.198G>A | NP_004014.2:p.Gln66= | |
| NM_004013.3:c.198G>A | NP_004004.2:p.Gln66= | |
| NM_004020.4:c.198G>A | NP_004011.3:p.Gln66= | |
| NM_004022.3:c.198G>A | NP_004013.2:p.Gln66= |