Linked Data
ClinVar Variation Id:
2819995
ClinVar RCV Id:
RCV003762514
dbSNP Id:
rs1372178914
gnomAD v4:
X-2934937-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.2934937A>G , CM000685.2:g.2934937A>G | GRCh38 |
| NC_000023.10:g.2852978A>G , CM000685.1:g.2852978A>G | GRCh37 |
| NC_000023.9:g.2862978A>G | NCBI36 |
| NG_007091.1:g.34334T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000540563.6:c.1665T>C | ENSP00000438198.2:p.Val555= | |
| ENST00000681963.1:c.1740T>C | ENSP00000507760.1:p.Val580= | |
| ENST00000682184.1:c.1542T>C | ENSP00000507043.1:p.Val514= | |
| ENST00000682364.1:c.1104T>C | ENSP00000507604.1:p.Val368= | |
| ENST00000683191.1:n.1445T>C | ||
| ENST00000683290.1:c.1740T>C | ENSP00000508156.1:p.Val580= | |
| ENST00000683677.1:c.1653T>C | ENSP00000506786.1:p.Val551= | |
| ENST00000684077.1:c.1218T>C | ENSP00000506767.1:p.Val406= | |
| ENST00000684117.1:c.1503T>C | ENSP00000508337.1:p.Val501= | |
| ENST00000684364.1:c.1653T>C | ENSP00000507304.1:p.Val551= | |
| ENST00000684738.1:c.1104T>C | ENSP00000507481.1:p.Val368= | |
| ENST00000381134.9:c.1665T>C MANE Select | ENSP00000370526.3:p.Val555= | |
| ENST00000545496.6:c.1740T>C | ENSP00000441417.1:p.Val580= | |
| ENST00000672027.1:c.1740T>C | ENSP00000500220.1:p.Val580= | |
| ENST00000672097.1:c.1662T>C | ENSP00000500727.1:p.Val554= | |
| ENST00000672761.1:c.1503T>C | ENSP00000500108.1:p.Val501= | |
| ENST00000673032.1:c.1503T>C | ENSP00000500778.1:p.Val501= | |
| ENST00000381134.7:c.1665T>C | ENSP00000370526.3:p.Val555= | |
| ENST00000540563.5:c.1530T>C | ENSP00000438198.1:p.Val510= | |
| ENST00000545496.5:c.1740T>C | ENSP00000441417.1:p.Val580= | |
| NM_000047.2:c.1665T>C | NP_000038.2:p.Val555= | |
| NM_001282628.1:c.1740T>C | NP_001269557.1:p.Val580= | |
| NM_001282631.1:c.1530T>C | NP_001269560.1:p.Val510= | |
| XM_005274518.2:c.1692T>C | XP_005274575.1:p.Val564= | |
| XM_005274519.3:c.1665T>C | XP_005274576.1:p.Val555= | |
| XM_005274521.3:c.1503T>C | XP_005274578.1:p.Val501= | |
| XM_011545519.1:c.1503T>C | XP_011543821.1:p.Val501= | |
| XM_011545520.1:c.1179T>C | XP_011543822.1:p.Val393= | |
| XM_011545521.1:c.1104T>C | XP_011543823.1:p.Val368= | |
| XM_005274519.4:c.1665T>C | XP_005274576.1:p.Val555= | |
| XM_005274521.4:c.1503T>C | XP_005274578.1:p.Val501= | |
| XM_017029525.1:c.1740T>C | XP_016885014.1:p.Val580= | |
| XM_017029526.1:c.1179T>C | XP_016885015.1:p.Val393= | |
| NM_000047.3:c.1665T>C MANE Select | NP_000038.2:p.Val555= | |
| NM_001282631.2:c.1503T>C | NP_001269560.2:p.Val501= | |
| NM_001369079.1:c.1692T>C | NP_001356008.1:p.Val564= | |
| NM_001369080.1:c.1740T>C | NP_001356009.1:p.Val580= | |
| NM_001282628.2:c.1740T>C | NP_001269557.1:p.Val580= |