Linked Data
dbSNP Id:
rs756694442
ExAC:
17:12896247 A / C
gnomAD v2:
17-12896247-A-C
gnomAD v3:
17-12992930-A-C
gnomAD v4:
17-12992930-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992930A>C , CM000679.2:g.12992930A>C | GRCh38 |
| NC_000017.10:g.12896247A>C , CM000679.1:g.12896247A>C | GRCh37 |
| NC_000017.9:g.12836972A>C | NCBI36 |
| NG_015808.1:g.30135T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2369T>G MANE Select | ENSP00000337445.4:p.Val790Gly | |
| ENST00000338034.8:c.2369T>G | ENSP00000337445.4:p.Val790Gly | |
| ENST00000395962.6:c.2312T>G | ENSP00000379291.1:p.Val771Gly | |
| ENST00000426905.7:c.2249T>G | ENSP00000405223.3:p.Val750Gly | |
| ENST00000465825.5:n.2256T>G | ||
| ENST00000480891.5:n.2198T>G | ||
| ENST00000484122.5:n.3199T>G | ||
| ENST00000487229.6:n.1915T>G | ||
| ENST00000584650.5:c.1768T>G | ||
| NM_001165962.1:c.2249T>G | NP_001159434.1:p.Val750Gly | |
| NM_018127.6:c.2369T>G | NP_060597.4:p.Val790Gly | |
| NM_173717.1:c.2366T>G | NP_776065.1:p.Val789Gly | |
| XM_024450850.1:c.2528T>G | XP_024306618.1:p.Val843Gly | |
| XM_024450851.1:c.2450T>G | XP_024306619.1:p.Val817Gly | |
| XM_024450852.1:c.2447T>G | XP_024306620.1:p.Val816Gly | |
| XM_024450853.1:c.2444T>G | XP_024306621.1:p.Val815Gly | |
| XM_024450854.1:c.2408T>G | XP_024306622.1:p.Val803Gly | |
| XM_024450855.1:c.2327T>G | XP_024306623.1:p.Val776Gly | |
| XM_024450856.1:c.2246T>G | XP_024306624.1:p.Val749Gly | |
| XM_024450857.1:c.2246T>G | XP_024306625.1:p.Val749Gly | |
| XM_024450858.1:c.2165T>G | XP_024306626.1:p.Val722Gly | |
| XM_024450859.1:c.2162T>G | XP_024306627.1:p.Val721Gly | |
| XM_024450860.1:c.2087T>G | XP_024306628.1:p.Val696Gly | |
| XM_024450861.1:c.2087T>G | XP_024306629.1:p.Val696Gly | |
| XM_024450862.1:c.2084T>G | XP_024306630.1:p.Val695Gly | |
| NM_018127.7:c.2369T>G MANE Select | NP_060597.4:p.Val790Gly | |
| NM_001165962.2:c.2249T>G | NP_001159434.1:p.Val750Gly | |
| NM_173717.2:c.2366T>G | NP_776065.1:p.Val789Gly |