Linked Data
ClinVar Variation Id:
94818
dbSNP Id:
rs398124077
ExAC:
X:31496267 C / T
gnomAD v2:
X-31496267-C-T
gnomAD v4:
X-31478150-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31478150C>T , CM000685.2:g.31478150C>T | GRCh38 |
| NC_000023.10:g.31496267C>T , CM000685.1:g.31496267C>T | GRCh37 |
| NC_000023.9:g.31406188C>T | NCBI36 |
| NG_012232.1:g.1866460G>A , LRG_199:g.1866460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3739G>A | ENSP00000350765.3:p.Asp1247Asn | |
| ENST00000682238.1:c.1513G>A | ENSP00000508124.1:p.Asp505Asn | |
| ENST00000683450.1:n.2358G>A | ||
| ENST00000683957.1:n.2385G>A | ||
| ENST00000684130.1:c.1513G>A | ENSP00000508037.1:p.Asp505Asn | |
| ENST00000343523.7:c.748G>A | ENSP00000340057.4:p.Asp250Asn | |
| ENST00000357033.9:c.8893G>A MANE Select | ENSP00000354923.3:p.Asp2965Asn | |
| ENST00000619831.5:c.4861G>A | ENSP00000479270.2:p.Asp1621Asn | |
| ENST00000620040.5:c.1513G>A | ENSP00000478150.2:p.Asp505Asn | |
| ENST00000680961.1:c.1513G>A | ENSP00000506386.1:p.Asp505Asn | |
| ENST00000681646.1:n.2554G>A | ||
| ENST00000343523.6:c.706G>A | ENSP00000340057.3:p.Asp236Asn | |
| ENST00000357033.8:c.8893G>A | ENSP00000354923.3:p.Asp2965Asn | |
| ENST00000358062.6:c.1981G>A | ENSP00000350765.2:p.Asp661Asn | |
| ENST00000359836.5:c.1513G>A | ENSP00000352894.1:p.Asp505Asn | |
| ENST00000378677.6:c.8881G>A | ENSP00000367948.2:p.Asp2961Asn | |
| ENST00000378707.7:c.1513G>A | ENSP00000367979.3:p.Asp505Asn | |
| ENST00000474231.5:c.1513G>A | ENSP00000417123.1:p.Asp505Asn | |
| ENST00000541735.5:c.1513G>A | ENSP00000444119.1:p.Asp505Asn | |
| ENST00000619831.4:c.8878G>A | ENSP00000479270.1:p.Asp2960Asn | |
| ENST00000620040.4:c.8890G>A | ENSP00000478150.1:p.Asp2964Asn | |
| NM_000109.3:c.8869G>A | NP_000100.2:p.Asp2957Asn | |
| NM_004006.2:c.8893G>A , LRG_199t1:c.8893G>A | NP_003997.1:p.Asp2965Asn | |
| NM_004009.3:c.8881G>A | NP_004000.1:p.Asp2961Asn | |
| NM_004010.3:c.8524G>A | NP_004001.1:p.Asp2842Asn | |
| NM_004011.3:c.4870G>A | NP_004002.2:p.Asp1624Asn | |
| NM_004012.3:c.4861G>A | NP_004003.1:p.Asp1621Asn | |
| NM_004013.2:c.1513G>A | NP_004004.1:p.Asp505Asn | |
| NM_004014.2:c.706G>A | NP_004005.1:p.Asp236Asn | |
| NM_004020.3:c.1513G>A | NP_004011.2:p.Asp505Asn | |
| NM_004021.2:c.1513G>A | NP_004012.1:p.Asp505Asn | |
| NM_004022.2:c.1513G>A | NP_004013.1:p.Asp505Asn | |
| NM_004023.2:c.1513G>A | NP_004014.1:p.Asp505Asn | |
| XM_006724468.2:c.8893G>A | XP_006724531.1:p.Asp2965Asn | |
| XM_006724469.2:c.8869G>A | XP_006724532.1:p.Asp2957Asn | |
| XM_006724470.2:c.8893G>A | XP_006724533.1:p.Asp2965Asn | |
| XM_006724471.2:c.8893G>A | XP_006724534.1:p.Asp2965Asn | |
| XM_006724472.2:c.8764G>A | XP_006724535.1:p.Asp2922Asn | |
| XM_006724473.2:c.8755G>A | XP_006724536.1:p.Asp2919Asn | |
| XM_006724474.2:c.8893G>A | XP_006724537.1:p.Asp2965Asn | |
| XM_006724475.2:c.8893G>A | XP_006724538.1:p.Asp2965Asn | |
| XM_011545467.1:c.8770G>A | XP_011543769.1:p.Asp2924Asn | |
| XM_011545468.1:c.8893G>A | XP_011543770.1:p.Asp2965Asn | |
| XM_006724469.3:c.8869G>A | XP_006724532.1:p.Asp2957Asn | |
| XM_006724470.3:c.8893G>A | XP_006724533.1:p.Asp2965Asn | |
| XM_006724474.3:c.8893G>A | XP_006724537.1:p.Asp2965Asn | |
| XM_011545468.2:c.8893G>A | XP_011543770.1:p.Asp2965Asn | |
| XM_017029328.1:c.8893G>A | XP_016884817.1:p.Asp2965Asn | |
| XM_017029331.1:c.3067G>A | XP_016884820.1:p.Asp1023Asn | |
| NM_000109.4:c.8869G>A | NP_000100.3:p.Asp2957Asn | |
| NM_004006.3:c.8893G>A MANE Select | NP_003997.2:p.Asp2965Asn | |
| NM_004011.4:c.4870G>A | NP_004002.3:p.Asp1624Asn | |
| NM_004012.4:c.4861G>A | NP_004003.2:p.Asp1621Asn | |
| NM_004021.3:c.1513G>A | NP_004012.2:p.Asp505Asn | |
| NM_004023.3:c.1513G>A | NP_004014.2:p.Asp505Asn | |
| NM_004013.3:c.1513G>A | NP_004004.2:p.Asp505Asn | |
| NM_004014.3:c.706G>A | NP_004005.2:p.Asp236Asn | |
| NM_004020.4:c.1513G>A | NP_004011.3:p.Asp505Asn | |
| NM_004022.3:c.1513G>A | NP_004013.2:p.Asp505Asn |