Linked Data
ClinVar Variation Id:
95309
dbSNP Id:
rs741932
ExAC:
X:48759204 C / T
gnomAD v2:
X-48759204-C-T
gnomAD v3:
X-48901927-C-T
gnomAD v4:
X-48901927-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48901927C>T , CM000685.2:g.48901927C>T | GRCh38 |
| NC_000023.10:g.48759204C>T , CM000685.1:g.48759204C>T | GRCh37 |
| NC_000023.9:g.48644148C>T | NCBI36 |
| NG_015967.1:g.9010C>T | |
| NG_015968.2:g.1223G>A | |
| NG_034300.1:g.15032G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218224.9:c.180-3C>T | ENSP00000218224.4:n.180-3C>T | |
| ENST00000376563.6:c.180-3C>T | ENSP00000365747.1:n.180-3C>T | |
| ENST00000396763.6:c.180-3C>T | ENSP00000379985.1:n.180-3C>T | |
| ENST00000443648.6:c.180-3C>T | ENSP00000414861.2:n.180-3C>T | |
| ENST00000456306.2:c.-145-3C>T | ENSP00000393013.2:n.-145-3C>T | |
| ENST00000472742.6:c.180-3C>T | ENSP00000509191.1:n.180-3C>T | |
| ENST00000473764.6:n.605-3C>T | ||
| ENST00000474671.6:n.986C>T | ||
| ENST00000477997.6:n.912C>T | ||
| ENST00000486150.6:n.896C>T | ||
| ENST00000692023.1:c.*384C>T | ENSP00000509927.1:n.*384C>T | |
| ENST00000447146.7:c.180-3C>T MANE Select | ENSP00000391759.2:n.180-3C>T | |
| ENST00000651767.1:c.180-3C>T | ENSP00000498362.1:n.180-3C>T | |
| ENST00000218224.8:c.180-3C>T | ENSP00000218224.4:n.180-3C>T | |
| ENST00000247140.8:c.180-3C>T | ENSP00000247140.4:n.180-3C>T | |
| ENST00000376563.5:c.180-3C>T | ENSP00000365747.1:n.180-3C>T | |
| ENST00000376566.8:c.180-3C>T | ENSP00000365750.4:n.180-3C>T | |
| ENST00000396763.5:c.180-3C>T | ENSP00000379985.1:n.180-3C>T | |
| ENST00000443648.5:c.180-3C>T | ENSP00000414861.1:n.180-3C>T | |
| ENST00000447146.6:c.180-3C>T | ENSP00000391759.2:n.180-3C>T | |
| ENST00000456306.1:c.146-3C>T | ||
| ENST00000463529.4:n.180-3C>T | ||
| ENST00000465859.2:n.180-3C>T | ||
| ENST00000470059.5:n.180-3C>T | ||
| ENST00000470062.5:n.285-3C>T | ||
| ENST00000472742.5:n.349-3C>T | ||
| ENST00000473764.5:n.752-3C>T | ||
| ENST00000474671.5:n.240-3C>T | ||
| ENST00000477997.5:n.261-3C>T | ||
| NM_001032381.1:c.180-3C>T | NP_001027553.1:n.180-3C>T | |
| NM_001032382.1:c.180-3C>T | NP_001027554.1:n.180-3C>T | |
| NM_001032383.1:c.180-3C>T | NP_001027555.1:n.180-3C>T | |
| NM_001032384.1:c.180-3C>T | NP_001027556.1:n.180-3C>T | |
| NM_001167989.1:c.180-3C>T | NP_001161461.1:n.180-3C>T | |
| NM_001167990.1:c.156-3C>T | NP_001161462.1:n.156-3C>T | |
| NM_001167992.1:c.180-3C>T | NP_001161464.1:n.180-3C>T | |
| NM_005710.2:c.180-3C>T | NP_005701.1:n.180-3C>T | |
| NM_144495.2:c.180-3C>T | NP_652766.1:n.180-3C>T | |
| XM_005272571.3:c.180-3C>T | XP_005272628.1:n.180-3C>T | |
| XM_005272572.3:c.180-3C>T | XP_005272629.1:n.180-3C>T | |
| XM_011543884.1:c.180-3C>T | XP_011542186.1:n.180-3C>T | |
| XM_005272572.4:c.180-3C>T | XP_005272629.1:n.180-3C>T | |
| XM_011543884.2:c.180-3C>T | XP_011542186.1:n.180-3C>T | |
| XM_017029207.1:c.180-3C>T | XP_016884696.1:n.180-3C>T | |
| NM_001032381.2:c.180-3C>T | NP_001027553.1:n.180-3C>T | |
| NM_001032382.2:c.180-3C>T MANE Select | NP_001027554.1:n.180-3C>T | |
| NM_001032383.2:c.180-3C>T | NP_001027555.1:n.180-3C>T | |
| NM_001167989.2:c.180-3C>T | NP_001161461.1:n.180-3C>T | |
| NM_001167990.2:c.156-3C>T | NP_001161462.1:n.156-3C>T | |
| NM_144495.3:c.180-3C>T | NP_652766.1:n.180-3C>T |