Linked Data
ClinVar Variation Id:
2928309
ClinVar RCV Id:
RCV003787131
dbSNP Id:
rs756179851
ExAC:
X:13754620 T / G
gnomAD v2:
X-13754620-T-G
gnomAD v3:
X-13736501-T-G
gnomAD v4:
X-13736501-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13736501T>G , CM000685.2:g.13736501T>G | GRCh38 |
| NC_000023.10:g.13754620T>G , CM000685.1:g.13754620T>G | GRCh37 |
| NC_000023.9:g.13664541T>G | NCBI36 |
| NG_008872.1:g.6789T>G | |
| NG_011555.1:g.3123A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.135T>G | ENSP00000369941.2:p.Ile45Met | |
| ENST00000398395.8:c.135T>G | ENSP00000381432.5:p.Ile45Met | |
| ENST00000464463.6:n.418T>G | ||
| ENST00000485052.6:n.628T>G | ||
| ENST00000490265.6:n.107T>G | ||
| ENST00000682237.1:c.135T>G | ENSP00000507121.1:p.Ile45Met | |
| ENST00000682562.1:c.135T>G | ENSP00000507874.1:p.Ile45Met | |
| ENST00000682953.1:c.*198T>G | ENSP00000507878.1:n.*198T>G | |
| ENST00000683055.1:c.135T>G | ENSP00000508191.1:p.Ile45Met | |
| ENST00000683284.1:c.112-155T>G | ENSP00000507837.1:n.112-155T>G | |
| ENST00000683427.1:c.135T>G | ENSP00000507290.1:p.Ile45Met | |
| ENST00000683454.1:n.24T>G | ||
| ENST00000683655.1:c.135T>G | ENSP00000506770.1:p.Ile45Met | |
| ENST00000683713.1:c.135T>G | ENSP00000507797.1:p.Ile45Met | |
| ENST00000684401.1:n.526T>G | ||
| ENST00000684577.1:c.135T>G | ENSP00000507871.1:p.Ile45Met | |
| ENST00000340096.11:c.135T>G MANE Select | ENSP00000344314.6:p.Ile45Met | |
| ENST00000340096.10:c.135T>G | ENSP00000344314.6:p.Ile45Met | |
| ENST00000380550.6:c.135T>G | ENSP00000369923.3:p.Ile45Met | |
| ENST00000380567.5:c.-411T>G | ENSP00000369941.1:n.-411T>G | |
| ENST00000398395.7:c.-400T>G | ENSP00000381432.4:n.-400T>G | |
| ENST00000485052.5:n.639T>G | ||
| ENST00000490265.5:n.446T>G | ||
| NM_003611.2:c.135T>G | NP_003602.1:p.Ile45Met | |
| XM_005274599.2:c.156T>G | XP_005274656.1:p.Ile52Met | |
| XM_005274602.2:c.156T>G | XP_005274659.1:p.Ile52Met | |
| XM_005274603.2:c.156T>G | XP_005274660.1:p.Ile52Met | |
| XM_005274604.2:c.135T>G | XP_005274661.1:p.Ile45Met | |
| XM_005274606.2:c.-10T>G | XP_005274663.1:n.-10T>G | |
| XM_011545591.1:c.156T>G | XP_011543893.1:p.Ile52Met | |
| XM_011545592.1:c.98-155T>G | XP_011543894.1:n.98-155T>G | |
| XM_011545593.1:c.156T>G | XP_011543895.1:p.Ile52Met | |
| XM_011545594.1:c.-32-155T>G | XP_011543896.1:n.-32-155T>G | |
| XM_011545595.1:c.-32-155T>G | XP_011543897.1:n.-32-155T>G | |
| XM_011545596.1:c.156T>G | XP_011543898.1:p.Ile52Met | |
| XM_011545597.1:c.-411T>G | XP_011543899.1:n.-411T>G | |
| XR_247288.2:n.495T>G | ||
| NM_001330209.1:c.135T>G | NP_001317138.1:p.Ile45Met | |
| NM_001330210.1:c.-411T>G | NP_001317139.1:n.-411T>G | |
| XM_005274606.4:c.-10T>G | XP_005274663.1:n.-10T>G | |
| XM_011545592.3:c.98-155T>G | XP_011543894.1:n.98-155T>G | |
| XM_011545594.3:c.-32-155T>G | XP_011543896.1:n.-32-155T>G | |
| XM_011545597.2:c.-411T>G | XP_011543899.1:n.-411T>G | |
| XM_017029909.1:c.-256-155T>G | XP_016885398.1:n.-256-155T>G | |
| XM_024452468.1:c.-1805T>G | XP_024308236.1:n.-1805T>G | |
| XM_024452469.1:c.-1805T>G | XP_024308237.1:n.-1805T>G | |
| XM_024452470.1:c.-1650-155T>G | XP_024308238.1:n.-1650-155T>G | |
| XM_024452471.1:c.-1805T>G | XP_024308239.1:n.-1805T>G | |
| NM_003611.3:c.135T>G MANE Select | NP_003602.1:p.Ile45Met | |
| NM_001330209.2:c.135T>G | NP_001317138.1:p.Ile45Met | |
| NM_001330210.2:c.-411T>G | NP_001317139.1:n.-411T>G |