Linked Data
dbSNP Id:
rs716518
gnomAD v2:
5-152940456-A-G
gnomAD v3:
5-153560896-A-G
gnomAD v4:
5-153560896-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.153560896A>G , CM000667.2:g.153560896A>G | GRCh38 |
| NC_000005.9:g.152940456A>G , CM000667.1:g.152940456A>G | GRCh37 |
| NC_000005.8:g.152920649A>G | NCBI36 |
| NG_047078.1:g.76201A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340592.10:c.220+66831A>G | ENSP00000339343.5:n.220+66831A>G | |
| ENST00000520353.6:c.13+66831A>G | ENSP00000516539.1:n.13+66831A>G | |
| ENST00000706733.1:c.220+66831A>G | ENSP00000516520.1:n.220+66831A>G | |
| ENST00000706734.1:c.247+66831A>G | ENSP00000516521.1:n.247+66831A>G | |
| ENST00000706767.1:c.82+69926A>G | ENSP00000516540.1:n.82+69926A>G | |
| ENST00000285900.10:c.220+66831A>G MANE Select | ENSP00000285900.4:n.220+66831A>G | |
| ENST00000285900.9:c.220+66831A>G | ENSP00000285900.4:n.220+66831A>G | |
| ENST00000340592.9:c.220+66831A>G | ENSP00000339343.5:n.220+66831A>G | |
| ENST00000448073.8:c.250+66831A>G | ENSP00000415569.2:n.250+66831A>G | |
| ENST00000481559.6:n.361+66831A>G | ||
| ENST00000518142.5:c.220+66831A>G | ENSP00000427920.1:n.220+66831A>G | |
| ENST00000518783.1:c.250+66831A>G | ENSP00000428994.1:n.250+66831A>G | |
| ENST00000518862.5:n.168+66831A>G | ||
| ENST00000521843.6:c.13+66831A>G | ENSP00000427864.2:n.13+66831A>G | |
| NM_000827.3:c.220+66831A>G | NP_000818.2:n.220+66831A>G | |
| NM_001114183.1:c.220+66831A>G | NP_001107655.1:n.220+66831A>G | |
| NM_001258019.1:c.220+66831A>G | NP_001244948.1:n.220+66831A>G | |
| NM_001258020.1:c.-66+51090A>G | NP_001244949.1:n.-66+51090A>G | |
| NM_001258021.1:c.250+66831A>G | NP_001244950.1:n.250+66831A>G | |
| NM_001258022.1:c.250+66831A>G | NP_001244951.1:n.250+66831A>G | |
| NM_001258023.1:c.13+66831A>G | NP_001244952.1:n.13+66831A>G | |
| NR_047578.1:n.447+69926A>G | ||
| XM_011537635.1:c.160+66831A>G | XP_011535937.1:n.160+66831A>G | |
| XR_427776.2:n.490+66831A>G | ||
| NM_001364165.1:c.220+66831A>G | NP_001351094.1:n.220+66831A>G | |
| NM_001364166.1:c.247+66831A>G | NP_001351095.1:n.247+66831A>G | |
| NM_001364167.1:c.13+66831A>G | NP_001351096.1:n.13+66831A>G | |
| NR_157093.1:n.439+66831A>G | ||
| XM_017009392.1:c.250+66831A>G | XP_016864881.1:n.250+66831A>G | |
| NM_000827.4:c.220+66831A>G MANE Select | NP_000818.2:n.220+66831A>G | |
| NM_001114183.2:c.220+66831A>G | NP_001107655.1:n.220+66831A>G | |
| NM_001258019.2:c.220+66831A>G | NP_001244948.1:n.220+66831A>G | |
| NM_001258020.2:c.-66+51090A>G | NP_001244949.1:n.-66+51090A>G | |
| NM_001258021.2:c.250+66831A>G | NP_001244950.1:n.250+66831A>G | |
| NM_001258022.2:c.250+66831A>G | NP_001244951.1:n.250+66831A>G | |
| NM_001364165.2:c.220+66831A>G | NP_001351094.1:n.220+66831A>G | |
| NM_001364166.2:c.247+66831A>G | NP_001351095.1:n.247+66831A>G | |
| NM_001364167.2:c.13+66831A>G | NP_001351096.1:n.13+66831A>G | |
| NR_047578.2:n.301+69926A>G | ||
| NR_157093.2:n.439+66831A>G |