Linked Data
dbSNP Id:
rs1472247010
gnomAD v3:
17-12993016-G-C
gnomAD v4:
17-12993016-G-C
MyVariant Identifiers:
chr17:g.12896333G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12993016G>C , CM000679.2:g.12993016G>C | GRCh38 |
| NC_000017.10:g.12896333G>C , CM000679.1:g.12896333G>C | GRCh37 |
| NC_000017.9:g.12837058G>C | NCBI36 |
| NG_015808.1:g.30049C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2283C>G MANE Select | ENSP00000337445.4:p.Pro761= | |
| ENST00000338034.8:c.2283C>G | ENSP00000337445.4:p.Pro761= | |
| ENST00000395962.6:c.2226C>G | ENSP00000379291.1:p.Pro742= | |
| ENST00000426905.7:c.2163C>G | ENSP00000405223.3:p.Pro721= | |
| ENST00000465825.5:n.2170C>G | ||
| ENST00000480891.5:n.2112C>G | ||
| ENST00000484122.5:n.3113C>G | ||
| ENST00000487229.6:n.1829C>G | ||
| ENST00000584650.5:c.1682C>G | ||
| NM_001165962.1:c.2163C>G | NP_001159434.1:p.Pro721= | |
| NM_018127.6:c.2283C>G | NP_060597.4:p.Pro761= | |
| NM_173717.1:c.2280C>G | NP_776065.1:p.Pro760= | |
| XM_024450850.1:c.2442C>G | XP_024306618.1:p.Pro814= | |
| XM_024450851.1:c.2364C>G | XP_024306619.1:p.Pro788= | |
| XM_024450852.1:c.2361C>G | XP_024306620.1:p.Pro787= | |
| XM_024450853.1:c.2358C>G | XP_024306621.1:p.Pro786= | |
| XM_024450854.1:c.2322C>G | XP_024306622.1:p.Pro774= | |
| XM_024450855.1:c.2241C>G | XP_024306623.1:p.Pro747= | |
| XM_024450856.1:c.2160C>G | XP_024306624.1:p.Pro720= | |
| XM_024450857.1:c.2160C>G | XP_024306625.1:p.Pro720= | |
| XM_024450858.1:c.2079C>G | XP_024306626.1:p.Pro693= | |
| XM_024450859.1:c.2076C>G | XP_024306627.1:p.Pro692= | |
| XM_024450860.1:c.2001C>G | XP_024306628.1:p.Pro667= | |
| XM_024450861.1:c.2001C>G | XP_024306629.1:p.Pro667= | |
| XM_024450862.1:c.1998C>G | XP_024306630.1:p.Pro666= | |
| NM_018127.7:c.2283C>G MANE Select | NP_060597.4:p.Pro761= | |
| NM_001165962.2:c.2163C>G | NP_001159434.1:p.Pro721= | |
| NM_173717.2:c.2280C>G | NP_776065.1:p.Pro760= |