Linked Data
ClinVar Variation Id:
1031340
dbSNP Id:
rs778840618
ExAC:
X:13753193 G / A
gnomAD v2:
X-13753193-G-A
gnomAD v3:
X-13735074-G-A
gnomAD v4:
X-13735074-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13735074G>A , CM000685.2:g.13735074G>A | GRCh38 |
| NC_000023.10:g.13753193G>A , CM000685.1:g.13753193G>A | GRCh37 |
| NC_000023.9:g.13663114G>A | NCBI36 |
| NG_008872.1:g.5362G>A | |
| NG_011555.1:g.4550C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.3G>A | ENSP00000369941.2:p.Met1Ile | |
| ENST00000398395.8:c.3G>A | ENSP00000381432.5:p.Met1Ile | |
| ENST00000464463.6:n.286G>A | ||
| ENST00000485052.6:n.332G>A | ||
| ENST00000682237.1:c.3G>A | ENSP00000507121.1:p.Met1Ile | |
| ENST00000682562.1:c.3G>A | ENSP00000507874.1:p.Met1Ile | |
| ENST00000682953.1:c.3G>A | ENSP00000507878.1:p.Met1Ile | |
| ENST00000683055.1:c.3G>A | ENSP00000508191.1:p.Met1Ile | |
| ENST00000683284.1:c.3G>A | ENSP00000507837.1:p.Met1Ile | |
| ENST00000683427.1:c.3G>A | ENSP00000507290.1:p.Met1Ile | |
| ENST00000683655.1:c.3G>A | ENSP00000506770.1:p.Met1Ile | |
| ENST00000683713.1:c.3G>A | ENSP00000507797.1:p.Met1Ile | |
| ENST00000684577.1:c.3G>A | ENSP00000507871.1:p.Met1Ile | |
| ENST00000340096.11:c.3G>A MANE Select | ENSP00000344314.6:p.Met1Ile | |
| ENST00000340096.10:c.3G>A | ENSP00000344314.6:p.Met1Ile | |
| ENST00000380550.6:c.3G>A | ENSP00000369923.3:p.Met1Ile | |
| ENST00000380567.5:c.-543G>A | ENSP00000369941.1:n.-543G>A | |
| ENST00000398395.7:c.-532G>A | ENSP00000381432.4:n.-532G>A | |
| ENST00000485052.5:n.318G>A | ||
| ENST00000490265.5:n.314G>A | ||
| NM_003611.2:c.3G>A | NP_003602.1:p.Met1Ile | |
| XM_005274599.2:c.34-174G>A | XP_005274656.1:n.34-174G>A | |
| XM_005274602.2:c.34-174G>A | XP_005274659.1:n.34-174G>A | |
| XM_005274603.2:c.34-174G>A | XP_005274660.1:n.34-174G>A | |
| XM_005274604.2:c.3G>A | XP_005274661.1:p.Met1Ile | |
| XM_005274606.2:c.-331G>A | XP_005274663.1:n.-331G>A | |
| XM_011545591.1:c.34-174G>A | XP_011543893.1:n.34-174G>A | |
| XM_011545592.1:c.-201G>A | XP_011543894.1:n.-201G>A | |
| XM_011545593.1:c.34-174G>A | XP_011543895.1:n.34-174G>A | |
| XM_011545596.1:c.34-174G>A | XP_011543898.1:n.34-174G>A | |
| XM_011545597.1:c.-543G>A | XP_011543899.1:n.-543G>A | |
| XR_247288.2:n.373-174G>A | ||
| NM_001330209.1:c.3G>A | NP_001317138.1:p.Met1Ile | |
| NM_001330210.1:c.-543G>A | NP_001317139.1:n.-543G>A | |
| XM_005274606.4:c.-331G>A | XP_005274663.1:n.-331G>A | |
| XM_011545592.3:c.-201G>A | XP_011543894.1:n.-201G>A | |
| XM_011545597.2:c.-543G>A | XP_011543899.1:n.-543G>A | |
| XM_024452468.1:c.-1937G>A | XP_024308236.1:n.-1937G>A | |
| XM_024452469.1:c.-2126G>A | XP_024308237.1:n.-2126G>A | |
| XM_024452470.1:c.-1759G>A | XP_024308238.1:n.-1759G>A | |
| XM_024452471.1:c.-1937G>A | XP_024308239.1:n.-1937G>A | |
| NM_003611.3:c.3G>A MANE Select | NP_003602.1:p.Met1Ile | |
| NM_001330209.2:c.3G>A | NP_001317138.1:p.Met1Ile | |
| NM_001330210.2:c.-543G>A | NP_001317139.1:n.-543G>A |