Linked Data
dbSNP Id:
rs752323054
gnomAD v2:
9-34647623-T-G
gnomAD v3:
9-34647626-T-G
gnomAD v4:
9-34647626-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647626T>G , CM000671.2:g.34647626T>G | GRCh38 |
| NC_000009.11:g.34647623T>G , CM000671.1:g.34647623T>G | GRCh37 |
| NC_000009.10:g.34637623T>G | NCBI36 |
| NG_009029.1:g.5989T>G | |
| NG_028966.1:g.442T>G | |
| NG_009029.2:g.6038T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.328+59T>G | ENSP00000509954.1:n.328+59T>G | |
| ENST00000378842.8:c.329-31T>G MANE Select | ENSP00000368119.4:n.329-31T>G | |
| ENST00000378842.7:c.329-31T>G | ENSP00000368119.3:n.329-31T>G | |
| ENST00000450095.6:c.51-206T>G | ENSP00000401956.2:n.51-206T>G | |
| ENST00000465543.6:n.668-31T>G | ||
| ENST00000472111.5:n.428T>G | ||
| ENST00000473506.6:c.280-31T>G | ENSP00000432839.2:n.280-31T>G | |
| ENST00000473529.5:n.434T>G | ||
| ENST00000485531.1:n.613T>G | ||
| ENST00000487381.5:n.588-31T>G | ||
| ENST00000489643.6:n.282+368T>G | ||
| ENST00000554085.5:c.*73-31T>G | ENSP00000450419.1:n.*73-31T>G | |
| ENST00000554139.5:n.382-31T>G | ||
| ENST00000554330.5:n.335T>G | ||
| ENST00000554550.5:c.253-206T>G | ENSP00000451435.1:n.253-206T>G | |
| ENST00000554638.5:n.644T>G | ||
| ENST00000554897.5:c.253-206T>G | ENSP00000450942.1:n.253-206T>G | |
| ENST00000554944.5:n.368T>G | ||
| ENST00000555020.5:n.359-31T>G | ||
| ENST00000555086.5:n.333-31T>G | ||
| ENST00000555214.5:n.261+368T>G | ||
| ENST00000556157.1:n.453-31T>G | ||
| ENST00000556244.1:c.316-31T>G | ||
| ENST00000556278.1:c.252+368T>G | ENSP00000451792.1:n.252+368T>G | |
| ENST00000556403.5:n.400T>G | ||
| ENST00000556494.5:n.419T>G | ||
| ENST00000557541.5:n.473-31T>G | ||
| ENST00000557706.5:n.734T>G | ||
| NM_000155.3:c.329-31T>G | NP_000146.2:n.329-31T>G | |
| NM_001258332.1:c.51-206T>G | NP_001245261.1:n.51-206T>G | |
| NM_000155.4:c.329-31T>G MANE Select | NP_000146.2:n.329-31T>G | |
| NM_001258332.2:c.51-206T>G | NP_001245261.1:n.51-206T>G |