Linked Data
ClinVar Variation Id:
10946
ClinVar RCV Id:
RCV000011693
dbSNP Id:
rs132630330
gnomAD v4:
X-30724124-T-C
PubMed:
PMID:9719371
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30724124T>C , CM000685.2:g.30724124T>C | GRCh38 |
| NC_000023.10:g.30742241T>C , CM000685.1:g.30742241T>C | GRCh37 |
| NC_000023.9:g.30652162T>C | NCBI36 |
| NG_008178.1:g.75766T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000692461.1:c.1591T>C | ENSP00000509378.1:p.Trp531Arg | |
| ENST00000427190.6:c.1525T>C MANE Select | ENSP00000401720.2:p.Trp509Arg | |
| ENST00000479048.6:c.*1228T>C | ENSP00000420676.1:n.*1228T>C | |
| ENST00000378943.7:c.1507T>C | ENSP00000368226.3:p.Trp503Arg | |
| ENST00000378945.7:c.1507T>C | ENSP00000368228.3:p.Trp503Arg | |
| ENST00000378946.7:c.1525T>C | ENSP00000368229.3:p.Trp509Arg | |
| ENST00000427190.5:c.1525T>C | ENSP00000401720.2:p.Trp509Arg | |
| ENST00000481024.5:c.*1381T>C | ENSP00000418873.1:n.*1381T>C | |
| NM_000167.5:c.1507T>C | NP_000158.1:p.Trp503Arg | |
| NM_001128127.2:c.1507T>C | NP_001121599.1:p.Trp503Arg | |
| NM_001205019.1:c.1525T>C | NP_001191948.1:p.Trp509Arg | |
| NM_203391.3:c.1525T>C | NP_976325.1:p.Trp509Arg | |
| XM_005274488.3:c.892T>C | XP_005274545.1:p.Trp298Arg | |
| XM_006724483.2:c.1591T>C | XP_006724546.1:p.Trp531Arg | |
| XM_006724484.2:c.1591T>C | XP_006724547.1:p.Trp531Arg | |
| XM_006724485.2:c.910T>C | XP_006724548.1:p.Trp304Arg | |
| XM_006724486.2:c.910T>C | XP_006724549.1:p.Trp304Arg | |
| XM_011545491.1:c.1609T>C | XP_011543793.1:p.Trp537Arg | |
| XM_011545492.1:c.1609T>C | XP_011543794.1:p.Trp537Arg | |
| XM_011545493.1:c.910T>C | XP_011543795.1:p.Trp304Arg | |
| XM_011545494.1:c.910T>C | XP_011543796.1:p.Trp304Arg | |
| XM_005274488.4:c.892T>C | XP_005274545.1:p.Trp298Arg | |
| XM_006724486.3:c.910T>C | XP_006724549.1:p.Trp304Arg | |
| XM_011545491.2:c.1609T>C | XP_011543793.1:p.Trp537Arg | |
| XM_011545493.2:c.910T>C | XP_011543795.1:p.Trp304Arg | |
| XM_011545494.2:c.910T>C | XP_011543796.1:p.Trp304Arg | |
| XM_017029409.1:c.910T>C | XP_016884898.1:p.Trp304Arg | |
| XM_017029410.1:c.910T>C | XP_016884899.1:p.Trp304Arg | |
| XM_017029411.1:c.892T>C | XP_016884900.1:p.Trp298Arg | |
| XM_017029412.2:c.892T>C | XP_016884901.1:p.Trp298Arg | |
| NM_000167.6:c.1507T>C | NP_000158.1:p.Trp503Arg | |
| NM_001128127.3:c.1507T>C | NP_001121599.1:p.Trp503Arg | |
| NM_001205019.2:c.1525T>C MANE Select | NP_001191948.1:p.Trp509Arg | |
| NM_203391.4:c.1525T>C | NP_976325.1:p.Trp509Arg | |
| NM_001399987.1:c.1591T>C | NP_001386916.1:p.Trp531Arg | |
| NR_174369.1:n.1805T>C | ||
| NR_174370.1:n.1533T>C | ||
| NR_174371.1:n.1459T>C | ||
| NR_174372.1:n.1441T>C | ||
| NR_174373.1:n.1515T>C | ||
| NR_174374.1:n.1459T>C | ||
| NR_174375.1:n.1441T>C |