Linked Data
dbSNP Id:
rs750300963
ExAC:
9:34647476 T / G
gnomAD v2:
9-34647476-T-G
gnomAD v3:
9-34647479-T-G
gnomAD v4:
9-34647479-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647479T>G , CM000671.2:g.34647479T>G | GRCh38 |
| NC_000009.11:g.34647476T>G , CM000671.1:g.34647476T>G | GRCh37 |
| NC_000009.10:g.34637476T>G | NCBI36 |
| NG_009029.1:g.5842T>G | |
| NG_028966.1:g.295T>G | |
| NG_009029.2:g.5891T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.253-13T>G | ENSP00000509954.1:n.253-13T>G | |
| ENST00000378842.8:c.253-13T>G MANE Select | ENSP00000368119.4:n.253-13T>G | |
| ENST00000378842.7:c.253-13T>G | ENSP00000368119.3:n.253-13T>G | |
| ENST00000450095.6:c.50+221T>G | ENSP00000401956.2:n.50+221T>G | |
| ENST00000465543.6:n.592-13T>G | ||
| ENST00000468099.2:n.513T>G | ||
| ENST00000472111.5:n.294-13T>G | ||
| ENST00000473506.6:c.253-62T>G | ENSP00000432839.2:n.253-62T>G | |
| ENST00000473529.5:n.300-13T>G | ||
| ENST00000485531.1:n.466T>G | ||
| ENST00000487381.5:n.499T>G | ||
| ENST00000489643.6:n.282+221T>G | ||
| ENST00000554085.5:c.257T>G | ENSP00000450419.1:p.Ile86Ser | |
| ENST00000554139.5:n.306-13T>G | ||
| ENST00000554330.5:n.250-62T>G | ||
| ENST00000554550.5:c.252+221T>G | ENSP00000451435.1:n.252+221T>G | |
| ENST00000554638.5:n.497T>G | ||
| ENST00000554897.5:c.252+221T>G | ENSP00000450942.1:n.252+221T>G | |
| ENST00000554944.5:n.283-62T>G | ||
| ENST00000555020.5:n.283-13T>G | ||
| ENST00000555086.5:n.257-13T>G | ||
| ENST00000555214.5:n.261+221T>G | ||
| ENST00000556157.1:n.364T>G | ||
| ENST00000556244.1:c.227T>G | ||
| ENST00000556278.1:c.252+221T>G | ENSP00000451792.1:n.252+221T>G | |
| ENST00000556403.5:n.266-13T>G | ||
| ENST00000556494.5:n.285-13T>G | ||
| ENST00000557541.5:n.446-62T>G | ||
| ENST00000557706.5:n.587T>G | ||
| NM_000155.3:c.253-13T>G | NP_000146.2:n.253-13T>G | |
| NM_001258332.1:c.50+221T>G | NP_001245261.1:n.50+221T>G | |
| NM_000155.4:c.253-13T>G MANE Select | NP_000146.2:n.253-13T>G | |
| NM_001258332.2:c.50+221T>G | NP_001245261.1:n.50+221T>G |