Linked Data
ClinVar Variation Id:
161219
dbSNP Id:
rs151244052
ExAC:
X:31747837 C / T
gnomAD v2:
X-31747837-C-T
gnomAD v3:
X-31729720-C-T
gnomAD v4:
X-31729720-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31729720C>T , CM000685.2:g.31729720C>T | GRCh38 |
| NC_000023.10:g.31747837C>T , CM000685.1:g.31747837C>T | GRCh37 |
| NC_000023.9:g.31657758C>T | NCBI36 |
| NG_012232.1:g.1614890G>A , LRG_199:g.1614890G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358062.7:c.2417G>A | ENSP00000350765.3:p.Arg806His | |
| ENST00000682238.1:c.191G>A | ENSP00000508124.1:p.Arg64His | |
| ENST00000683117.1:n.1232G>A | ||
| ENST00000683450.1:n.1125+44240G>A | ||
| ENST00000683851.1:n.1232G>A | ||
| ENST00000683957.1:n.1063G>A | ||
| ENST00000684130.1:c.191G>A | ENSP00000508037.1:p.Arg64His | |
| ENST00000357033.9:c.7571G>A MANE Select | ENSP00000354923.3:p.Arg2524His | |
| ENST00000619831.5:c.3539G>A | ENSP00000479270.2:p.Arg1180His | |
| ENST00000620040.5:c.191G>A | ENSP00000478150.2:p.Arg64His | |
| ENST00000680961.1:c.191G>A | ENSP00000506386.1:p.Arg64His | |
| ENST00000681646.1:n.1232G>A | ||
| ENST00000681839.1:c.560G>A | ENSP00000505228.1:p.Arg187His | |
| ENST00000357033.8:c.7571G>A | ENSP00000354923.3:p.Arg2524His | |
| ENST00000358062.6:c.659G>A | ENSP00000350765.2:p.Arg220His | |
| ENST00000359836.5:c.191G>A | ENSP00000352894.1:p.Arg64His | |
| ENST00000378677.6:c.7559G>A | ENSP00000367948.2:p.Arg2520His | |
| ENST00000378707.7:c.191G>A | ENSP00000367979.3:p.Arg64His | |
| ENST00000471779.1:c.328G>A | ENSP00000417075.1:n.328G>A | |
| ENST00000474231.5:c.191G>A | ENSP00000417123.1:p.Arg64His | |
| ENST00000541735.5:c.191G>A | ENSP00000444119.1:p.Arg64His | |
| ENST00000619831.4:c.7556G>A | ENSP00000479270.1:p.Arg2519His | |
| ENST00000620040.4:c.7568G>A | ENSP00000478150.1:p.Arg2523His | |
| NM_000109.3:c.7547G>A | NP_000100.2:p.Arg2516His | |
| NM_004006.2:c.7571G>A , LRG_199t1:c.7571G>A | NP_003997.1:p.Arg2524His | |
| NM_004009.3:c.7559G>A | NP_004000.1:p.Arg2520His | |
| NM_004010.3:c.7202G>A | NP_004001.1:p.Arg2401His | |
| NM_004011.3:c.3548G>A | NP_004002.2:p.Arg1183His | |
| NM_004012.3:c.3539G>A | NP_004003.1:p.Arg1180His | |
| NM_004013.2:c.191G>A | NP_004004.1:p.Arg64His | |
| NM_004020.3:c.191G>A | NP_004011.2:p.Arg64His | |
| NM_004021.2:c.191G>A | NP_004012.1:p.Arg64His | |
| NM_004022.2:c.191G>A | NP_004013.1:p.Arg64His | |
| NM_004023.2:c.191G>A | NP_004014.1:p.Arg64His | |
| XM_006724468.2:c.7571G>A | XP_006724531.1:p.Arg2524His | |
| XM_006724469.2:c.7547G>A | XP_006724532.1:p.Arg2516His | |
| XM_006724470.2:c.7571G>A | XP_006724533.1:p.Arg2524His | |
| XM_006724471.2:c.7571G>A | XP_006724534.1:p.Arg2524His | |
| XM_006724472.2:c.7442G>A | XP_006724535.1:p.Arg2481His | |
| XM_006724473.2:c.7433G>A | XP_006724536.1:p.Arg2478His | |
| XM_006724474.2:c.7571G>A | XP_006724537.1:p.Arg2524His | |
| XM_006724475.2:c.7571G>A | XP_006724538.1:p.Arg2524His | |
| XM_011545467.1:c.7448G>A | XP_011543769.1:p.Arg2483His | |
| XM_011545468.1:c.7571G>A | XP_011543770.1:p.Arg2524His | |
| XM_006724469.3:c.7547G>A | XP_006724532.1:p.Arg2516His | |
| XM_006724470.3:c.7571G>A | XP_006724533.1:p.Arg2524His | |
| XM_006724474.3:c.7571G>A | XP_006724537.1:p.Arg2524His | |
| XM_011545468.2:c.7571G>A | XP_011543770.1:p.Arg2524His | |
| XM_017029328.1:c.7571G>A | XP_016884817.1:p.Arg2524His | |
| XM_017029331.1:c.1745G>A | XP_016884820.1:p.Arg582His | |
| NM_000109.4:c.7547G>A | NP_000100.3:p.Arg2516His | |
| NM_004006.3:c.7571G>A MANE Select | NP_003997.2:p.Arg2524His | |
| NM_004011.4:c.3548G>A | NP_004002.3:p.Arg1183His | |
| NM_004012.4:c.3539G>A | NP_004003.2:p.Arg1180His | |
| NM_004021.3:c.191G>A | NP_004012.2:p.Arg64His | |
| NM_004023.3:c.191G>A | NP_004014.2:p.Arg64His | |
| NM_004013.3:c.191G>A | NP_004004.2:p.Arg64His | |
| NM_004020.4:c.191G>A | NP_004011.3:p.Arg64His | |
| NM_004022.3:c.191G>A | NP_004013.2:p.Arg64His |