Linked Data
dbSNP Id:
rs4585442
ExAC:
5:135508381 A / G
gnomAD v2:
5-135508381-A-G
gnomAD v3:
5-136172692-A-G
gnomAD v4:
5-136172692-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136172692A>G , CM000667.2:g.136172692A>G | GRCh38 |
| NC_000005.9:g.135508381A>G , CM000667.1:g.135508381A>G | GRCh37 |
| NC_000005.8:g.135536280A>G | NCBI36 |
| NG_032037.1:g.44846A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509297.6:c.997+37A>G | ENSP00000426696.2:n.997+37A>G | |
| ENST00000545279.6:c.997+37A>G MANE Select | ENSP00000441954.2:n.997+37A>G | |
| ENST00000507637.1:c.501A>G | ||
| ENST00000514777.1:n.281+37A>G | ||
| ENST00000545279.5:c.997+37A>G | ENSP00000441954.2:n.997+37A>G | |
| ENST00000545620.5:c.997+37A>G | ENSP00000446474.2:n.997+37A>G | |
| NM_001001419.2:c.997+37A>G | NP_001001419.1:n.997+37A>G | |
| NM_001001420.2:c.997+37A>G | NP_001001420.1:n.997+37A>G | |
| NM_005903.6:c.997+37A>G | NP_005894.3:n.997+37A>G | |
| XM_017009470.2:c.997+37A>G | XP_016864959.1:n.997+37A>G | |
| XM_024446046.1:c.997+37A>G | XP_024301814.1:n.997+37A>G | |
| XM_024446047.1:c.997+37A>G | XP_024301815.1:n.997+37A>G | |
| NM_005903.7:c.997+37A>G MANE Select | NP_005894.3:n.997+37A>G | |
| NM_001001419.3:c.997+37A>G | NP_001001419.1:n.997+37A>G | |
| NM_001001420.3:c.997+37A>G | NP_001001420.1:n.997+37A>G |