Linked Data
dbSNP Id:
rs39335
gnomAD v2:
7-103453569-T-C
gnomAD v3:
7-103813122-T-C
gnomAD v4:
7-103813122-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103813122T>C , CM000669.2:g.103813122T>C | GRCh38 |
| NC_000007.13:g.103453569T>C , CM000669.1:g.103453569T>C | GRCh37 |
| NC_000007.12:g.103240805T>C | NCBI36 |
| NG_011877.1:g.181395A>G | |
| NG_011877.2:g.181395A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000424685.3:c.473+20415A>G | ENSP00000388446.3:n.473+20415A>G | |
| ENST00000428762.6:c.473+20415A>G MANE Select | ENSP00000392423.1:n.473+20415A>G | |
| ENST00000473457.2:n.737+20415A>G | ||
| ENST00000679867.1:n.357+20415A>G | ||
| ENST00000680712.1:n.287+20415A>G | ||
| ENST00000681034.1:c.473+20415A>G | ENSP00000506075.1:n.473+20415A>G | |
| ENST00000681401.1:n.749+20415A>G | ||
| ENST00000681931.1:n.357+20415A>G | ||
| ENST00000343529.9:c.473+20415A>G | ENSP00000345694.5:n.473+20415A>G | |
| ENST00000424685.2:c.473+20415A>G | ENSP00000388446.2:n.473+20415A>G | |
| ENST00000428762.5:c.473+20415A>G | ENSP00000392423.1:n.473+20415A>G | |
| NM_005045.3:c.473+20415A>G | NP_005036.2:n.473+20415A>G | |
| NM_173054.2:c.473+20415A>G | NP_774959.1:n.473+20415A>G | |
| NM_005045.4:c.473+20415A>G MANE Select | NP_005036.2:n.473+20415A>G | |
| NM_173054.3:c.473+20415A>G | NP_774959.1:n.473+20415A>G |