Linked Data
ClinVar Variation Id:
159472
dbSNP Id:
rs149647255
ExAC:
X:13785309 A / C
gnomAD v2:
X-13785309-A-C
gnomAD v3:
X-13767190-A-C
gnomAD v4:
X-13767190-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13767190A>C , CM000685.2:g.13767190A>C | GRCh38 |
| NC_000023.10:g.13785309A>C , CM000685.1:g.13785309A>C | GRCh37 |
| NC_000023.9:g.13695230A>C | NCBI36 |
| NG_008872.1:g.37478A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*2356A>C | ENSP00000369941.2:n.*2356A>C | |
| ENST00000398395.8:c.*2124A>C | ENSP00000381432.5:n.*2124A>C | |
| ENST00000464463.6:n.4492A>C | ||
| ENST00000490265.6:n.3192A>C | ||
| ENST00000682237.1:c.*2223A>C | ENSP00000507121.1:n.*2223A>C | |
| ENST00000682562.1:c.*3954A>C | ENSP00000507874.1:n.*3954A>C | |
| ENST00000682953.1:c.*3279A>C | ENSP00000507878.1:n.*3279A>C | |
| ENST00000683055.1:c.*3533A>C | ENSP00000508191.1:n.*3533A>C | |
| ENST00000683284.1:c.*2894A>C | ENSP00000507837.1:n.*2894A>C | |
| ENST00000683427.1:c.*1320A>C | ENSP00000507290.1:n.*1320A>C | |
| ENST00000683454.1:n.2677A>C | ||
| ENST00000683637.1:n.3772A>C | ||
| ENST00000683655.1:c.*2877A>C | ENSP00000506770.1:n.*2877A>C | |
| ENST00000683713.1:c.*2894A>C | ENSP00000507797.1:n.*2894A>C | |
| ENST00000684577.1:c.*2249A>C | ENSP00000507871.1:n.*2249A>C | |
| ENST00000340096.11:c.2663A>C MANE Select | ENSP00000344314.6:p.Lys888Thr | |
| ENST00000340096.10:c.2663A>C | ENSP00000344314.6:p.Lys888Thr | |
| ENST00000380550.6:c.2543A>C | ENSP00000369923.3:p.Lys848Thr | |
| ENST00000380567.5:c.2243A>C | ENSP00000369941.1:p.Lys748Thr | |
| ENST00000398395.7:c.*1003A>C | ENSP00000381432.4:n.*1003A>C | |
| ENST00000464463.5:n.373A>C | ||
| ENST00000490265.5:n.3638A>C | ||
| NM_003611.2:c.2663A>C | NP_003602.1:p.Lys888Thr | |
| XM_005274599.2:c.2684A>C | XP_005274656.1:p.Lys895Thr | |
| XM_005274602.2:c.2573A>C | XP_005274659.1:p.Lys858Thr | |
| XM_005274603.2:c.2564A>C | XP_005274660.1:p.Lys855Thr | |
| XM_005274604.2:c.2543A>C | XP_005274661.1:p.Lys848Thr | |
| XM_005274606.2:c.2519A>C | XP_005274663.1:p.Lys840Thr | |
| XM_005274607.3:c.2243A>C | XP_005274664.1:p.Lys748Thr | |
| XM_011545591.1:c.2684A>C | XP_011543893.1:p.Lys895Thr | |
| XM_011545592.1:c.2471A>C | XP_011543894.1:p.Lys824Thr | |
| XM_011545593.1:c.2684A>C | XP_011543895.1:p.Lys895Thr | |
| XM_011545594.1:c.2342A>C | XP_011543896.1:p.Lys781Thr | |
| XM_011545595.1:c.2342A>C | XP_011543897.1:p.Lys781Thr | |
| XM_011545596.1:c.2510-864A>C | XP_011543898.1:n.2510-864A>C | |
| XM_011545597.1:c.2132A>C | XP_011543899.1:p.Lys711Thr | |
| XM_011545598.1:c.1388A>C | XP_011543900.1:p.Lys463Thr | |
| XR_247288.2:n.2960-864A>C | ||
| NM_001330209.1:c.2543A>C | NP_001317138.1:p.Lys848Thr | |
| NM_001330210.1:c.2243A>C | NP_001317139.1:p.Lys748Thr | |
| XM_005274606.4:c.2519A>C | XP_005274663.1:p.Lys840Thr | |
| XM_011545592.3:c.2471A>C | XP_011543894.1:p.Lys824Thr | |
| XM_011545594.3:c.2342A>C | XP_011543896.1:p.Lys781Thr | |
| XM_011545597.2:c.2132A>C | XP_011543899.1:p.Lys711Thr | |
| XM_017029909.1:c.2243A>C | XP_016885398.1:p.Lys748Thr | |
| XM_017029911.1:c.1721A>C | XP_016885400.1:p.Lys574Thr | |
| XM_024452468.1:c.1388A>C | XP_024308236.1:p.Lys463Thr | |
| XM_024452469.1:c.1388A>C | XP_024308237.1:p.Lys463Thr | |
| XM_024452470.1:c.1388A>C | XP_024308238.1:p.Lys463Thr | |
| XM_024452471.1:c.1277A>C | XP_024308239.1:p.Lys426Thr | |
| NM_003611.3:c.2663A>C MANE Select | NP_003602.1:p.Lys888Thr | |
| NM_001330209.2:c.2543A>C | NP_001317138.1:p.Lys848Thr | |
| NM_001330210.2:c.2243A>C | NP_001317139.1:p.Lys748Thr |