Linked Data
dbSNP Id:
rs750407993
ExAC:
4:997405 G / A
gnomAD v2:
4-997405-G-A
gnomAD v4:
4-1003617-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003617G>A , CM000666.2:g.1003617G>A | GRCh38 |
| NC_000004.11:g.997405G>A , CM000666.1:g.997405G>A | GRCh37 |
| NC_000004.10:g.987405G>A | NCBI36 |
| NG_008103.1:g.21621G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1719G>A | ENSP00000247933.4:p.Val573= | |
| ENST00000514224.2:c.1719G>A MANE Select | ENSP00000425081.2:p.Val573= | |
| ENST00000652070.1:n.1775G>A | ||
| ENST00000247933.8:c.1719G>A | ENSP00000247933.4:p.Val573= | |
| ENST00000514224.1:c.1323G>A | ENSP00000425081.1:p.Val441= | |
| ENST00000514417.1:n.111G>A | ||
| ENST00000514698.5:n.1826G>A | ||
| NM_000203.4:c.1719G>A | NP_000194.2:p.Val573= | |
| NR_110313.1:n.1807G>A | ||
| XM_006713882.2:c.1323G>A | XP_006713945.1:p.Val441= | |
| XM_011513459.1:c.1785G>A | XP_011511761.1:p.Val595= | |
| XM_011513460.1:c.1578G>A | XP_011511762.1:p.Val526= | |
| XM_011513461.1:c.1512G>A | XP_011511763.1:p.Val504= | |
| XM_011513462.1:c.1431G>A | XP_011511764.1:p.Val477= | |
| XM_011513463.1:c.1431G>A | XP_011511765.1:p.Val477= | |
| XR_924947.1:n.1975G>A | ||
| NM_000203.5:c.1719G>A MANE Select | NP_000194.2:p.Val573= | |
| NM_001363576.1:c.1323G>A | NP_001350505.1:p.Val441= | |
| XM_011513461.2:c.1512G>A | XP_011511763.1:p.Val504= | |
| XM_017008163.1:c.759G>A | XP_016863652.1:p.Val253= |