Linked Data
ClinVar Variation Id:
94757
dbSNP Id:
rs72466590
ExAC:
X:31854852 C / T
gnomAD v2:
X-31854852-C-T
gnomAD v3:
X-31836735-C-T
gnomAD v4:
X-31836735-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31836735C>T , CM000685.2:g.31836735C>T | GRCh38 |
| NC_000023.10:g.31854852C>T , CM000685.1:g.31854852C>T | GRCh37 |
| NC_000023.9:g.31764773C>T | NCBI36 |
| NG_012232.1:g.1507875G>A , LRG_199:g.1507875G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2029G>A | ENSP00000350765.3:p.Ala677Thr | |
| ENST00000682238.1:c.-198G>A | ENSP00000508124.1:n.-198G>A | |
| ENST00000683117.1:n.844G>A | ||
| ENST00000683450.1:n.766G>A | ||
| ENST00000683851.1:n.844G>A | ||
| ENST00000683957.1:n.675G>A | ||
| ENST00000684130.1:c.-198G>A | ENSP00000508037.1:n.-198G>A | |
| ENST00000357033.9:c.7183G>A MANE Select | ENSP00000354923.3:p.Ala2395Thr | |
| ENST00000619831.5:c.3151G>A | ENSP00000479270.2:p.Ala1051Thr | |
| ENST00000620040.5:c.-198G>A | ENSP00000478150.2:n.-198G>A | |
| ENST00000680961.1:c.-198G>A | ENSP00000506386.1:n.-198G>A | |
| ENST00000681646.1:n.844G>A | ||
| ENST00000681839.1:c.172G>A | ENSP00000505228.1:p.Ala58Thr | |
| ENST00000357033.8:c.7183G>A | ENSP00000354923.3:p.Ala2395Thr | |
| ENST00000358062.6:c.271G>A | ENSP00000350765.2:p.Ala91Thr | |
| ENST00000359836.5:c.-198G>A | ENSP00000352894.1:n.-198G>A | |
| ENST00000378677.6:c.7171G>A | ENSP00000367948.2:p.Ala2391Thr | |
| ENST00000378707.7:c.-198G>A | ENSP00000367979.3:n.-198G>A | |
| ENST00000471779.1:c.49G>A | ENSP00000417075.1:p.Ala17Thr | |
| ENST00000474231.5:c.-198G>A | ENSP00000417123.1:n.-198G>A | |
| ENST00000541735.5:c.-198G>A | ENSP00000444119.1:n.-198G>A | |
| ENST00000619831.4:c.7168G>A | ENSP00000479270.1:p.Ala2390Thr | |
| ENST00000620040.4:c.7180G>A | ENSP00000478150.1:p.Ala2394Thr | |
| NM_000109.3:c.7159G>A | NP_000100.2:p.Ala2387Thr | |
| NM_004006.2:c.7183G>A , LRG_199t1:c.7183G>A | NP_003997.1:p.Ala2395Thr | |
| NM_004009.3:c.7171G>A | NP_004000.1:p.Ala2391Thr | |
| NM_004010.3:c.6814G>A | NP_004001.1:p.Ala2272Thr | |
| NM_004011.3:c.3160G>A | NP_004002.2:p.Ala1054Thr | |
| NM_004012.3:c.3151G>A | NP_004003.1:p.Ala1051Thr | |
| NM_004013.2:c.-198G>A | NP_004004.1:n.-198G>A | |
| NM_004020.3:c.-198G>A | NP_004011.2:n.-198G>A | |
| NM_004021.2:c.-198G>A | NP_004012.1:n.-198G>A | |
| NM_004022.2:c.-198G>A | NP_004013.1:n.-198G>A | |
| NM_004023.2:c.-198G>A | NP_004014.1:n.-198G>A | |
| XM_006724468.2:c.7183G>A | XP_006724531.1:p.Ala2395Thr | |
| XM_006724469.2:c.7159G>A | XP_006724532.1:p.Ala2387Thr | |
| XM_006724470.2:c.7183G>A | XP_006724533.1:p.Ala2395Thr | |
| XM_006724471.2:c.7183G>A | XP_006724534.1:p.Ala2395Thr | |
| XM_006724472.2:c.7054G>A | XP_006724535.1:p.Ala2352Thr | |
| XM_006724473.2:c.7045G>A | XP_006724536.1:p.Ala2349Thr | |
| XM_006724474.2:c.7183G>A | XP_006724537.1:p.Ala2395Thr | |
| XM_006724475.2:c.7183G>A | XP_006724538.1:p.Ala2395Thr | |
| XM_011545467.1:c.7060G>A | XP_011543769.1:p.Ala2354Thr | |
| XM_011545468.1:c.7183G>A | XP_011543770.1:p.Ala2395Thr | |
| XM_006724469.3:c.7159G>A | XP_006724532.1:p.Ala2387Thr | |
| XM_006724470.3:c.7183G>A | XP_006724533.1:p.Ala2395Thr | |
| XM_006724474.3:c.7183G>A | XP_006724537.1:p.Ala2395Thr | |
| XM_011545468.2:c.7183G>A | XP_011543770.1:p.Ala2395Thr | |
| XM_017029328.1:c.7183G>A | XP_016884817.1:p.Ala2395Thr | |
| XM_017029331.1:c.1357G>A | XP_016884820.1:p.Ala453Thr | |
| NM_000109.4:c.7159G>A | NP_000100.3:p.Ala2387Thr | |
| NM_004006.3:c.7183G>A MANE Select | NP_003997.2:p.Ala2395Thr | |
| NM_004011.4:c.3160G>A | NP_004002.3:p.Ala1054Thr | |
| NM_004012.4:c.3151G>A | NP_004003.2:p.Ala1051Thr | |
| NM_004021.3:c.-198G>A | NP_004012.2:n.-198G>A | |
| NM_004023.3:c.-198G>A | NP_004014.2:n.-198G>A | |
| NM_004013.3:c.-198G>A | NP_004004.2:n.-198G>A | |
| NM_004020.4:c.-198G>A | NP_004011.3:n.-198G>A | |
| NM_004022.3:c.-198G>A | NP_004013.2:n.-198G>A |