Linked Data
ClinVar Variation Id:
431936
dbSNP Id:
rs150154235
ExAC:
16:2158773 A / C
gnomAD v2:
16-2158773-A-C
gnomAD v3:
16-2108772-A-C
gnomAD v4:
16-2108772-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2108772A>C , CM000678.2:g.2108772A>C | GRCh38 |
| NC_000016.9:g.2158773A>C , CM000678.1:g.2158773A>C | GRCh37 |
| NC_000016.8:g.2098774A>C | NCBI36 |
| NG_008617.1:g.32127T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.6395T>G MANE Select | ENSP00000262304.4:p.Phe2132Cys | |
| ENST00000262304.8:c.6395T>G | ENSP00000262304.4:p.Phe2132Cys | |
| ENST00000415938.7:n.311-1824T>G | ||
| ENST00000423118.5:c.6395T>G | ENSP00000399501.1:p.Phe2132Cys | |
| ENST00000483024.1:c.234-1824T>G | ||
| ENST00000483731.5:n.791-1824T>G | ||
| ENST00000487932.5:c.1082T>G | ENSP00000457132.1:p.Phe361Cys | |
| ENST00000488185.2:c.473-414T>G | ||
| ENST00000565639.6:n.774-1824T>G | ||
| ENST00000568591.5:c.2227-1824T>G | ENSP00000457162.1:n.2227-1824T>G | |
| ENST00000569983.5:n.422-1824T>G | ||
| NM_000296.3:c.6395T>G | NP_000287.3:p.Phe2132Cys | |
| NM_001009944.2:c.6395T>G | NP_001009944.2:p.Phe2132Cys | |
| XM_005255370.2:c.3350T>G | XP_005255427.1:p.Phe1117Cys | |
| XM_011522525.1:c.6473T>G | XP_011520827.1:p.Phe2158Cys | |
| XM_011522526.1:c.6473T>G | XP_011520828.1:p.Phe2158Cys | |
| XM_011522527.1:c.6473T>G | XP_011520829.1:p.Phe2158Cys | |
| XM_011522528.1:c.6449T>G | XP_011520830.1:p.Phe2150Cys | |
| XM_011522529.1:c.6449T>G | XP_011520831.1:p.Phe2150Cys | |
| XM_011522530.1:c.6419T>G | XP_011520832.1:p.Phe2140Cys | |
| XM_011522531.1:c.6401T>G | XP_011520833.1:p.Phe2134Cys | |
| XM_011522532.1:c.6347T>G | XP_011520834.1:p.Phe2116Cys | |
| XM_011522533.1:c.6266T>G | XP_011520835.1:p.Phe2089Cys | |
| XM_011522534.1:c.6209T>G | XP_011520836.1:p.Phe2070Cys | |
| XM_011522535.1:c.4295T>G | XP_011520837.1:p.Phe1432Cys | |
| XM_011522536.1:c.6473T>G | XP_011520838.1:p.Phe2158Cys | |
| XM_011522537.1:c.3473T>G | XP_011520839.1:p.Phe1158Cys | |
| XR_932867.1:n.6488T>G | ||
| XR_932868.1:n.6488T>G | ||
| XR_932869.1:n.6488T>G | ||
| XR_932870.1:n.6488T>G | ||
| XM_005255370.3:c.3350T>G | XP_005255427.1:p.Phe1117Cys | |
| XM_011522528.3:c.6449T>G | XP_011520830.1:p.Phe2150Cys | |
| XM_011522529.2:c.6449T>G | XP_011520831.1:p.Phe2150Cys | |
| XM_011522537.2:c.3473T>G | XP_011520839.1:p.Phe1158Cys | |
| XM_024450298.1:c.6515T>G | XP_024306066.1:p.Phe2172Cys | |
| XM_024450299.1:c.6443T>G | XP_024306067.1:p.Phe2148Cys | |
| XM_024450300.1:c.6305T>G | XP_024306068.1:p.Phe2102Cys | |
| XM_024450301.1:c.4391T>G | XP_024306069.1:p.Phe1464Cys | |
| NM_000296.4:c.6395T>G | NP_000287.4:p.Phe2132Cys | |
| NM_001009944.3:c.6395T>G MANE Select | NP_001009944.3:p.Phe2132Cys |