Linked Data
ClinVar Variation Id:
1712890
ClinVar RCV Id:
RCV002301062
dbSNP Id:
rs758919377
ExAC:
16:2161701 C / G
gnomAD v2:
16-2161701-C-G
gnomAD v3:
16-2111700-C-G
gnomAD v4:
16-2111700-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2111700C>G , CM000678.2:g.2111700C>G | GRCh38 |
| NC_000016.9:g.2161701C>G , CM000678.1:g.2161701C>G | GRCh37 |
| NC_000016.8:g.2101702C>G | NCBI36 |
| NG_008617.1:g.29199G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.3467G>C MANE Select | ENSP00000262304.4:p.Gly1156Ala | |
| ENST00000262304.8:c.3467G>C | ENSP00000262304.4:p.Gly1156Ala | |
| ENST00000415938.7:n.310+640G>C | ||
| ENST00000423118.5:c.3467G>C | ENSP00000399501.1:p.Gly1156Ala | |
| ENST00000468674.5:n.430+640G>C | ||
| ENST00000469241.2:n.417G>C | ||
| ENST00000483024.1:c.233+116G>C | ||
| ENST00000483731.5:n.790+640G>C | ||
| ENST00000488185.2:c.473-3342G>C | ||
| ENST00000565639.6:n.773+640G>C | ||
| ENST00000568591.5:c.2226+640G>C | ENSP00000457162.1:n.2226+640G>C | |
| ENST00000569983.5:n.421+640G>C | ||
| NM_000296.3:c.3467G>C | NP_000287.3:p.Gly1156Ala | |
| NM_001009944.2:c.3467G>C | NP_001009944.2:p.Gly1156Ala | |
| XM_005255370.2:c.422G>C | XP_005255427.1:p.Gly141Ala | |
| XM_011522525.1:c.3545G>C | XP_011520827.1:p.Gly1182Ala | |
| XM_011522526.1:c.3545G>C | XP_011520828.1:p.Gly1182Ala | |
| XM_011522527.1:c.3545G>C | XP_011520829.1:p.Gly1182Ala | |
| XM_011522528.1:c.3521G>C | XP_011520830.1:p.Gly1174Ala | |
| XM_011522529.1:c.3521G>C | XP_011520831.1:p.Gly1174Ala | |
| XM_011522530.1:c.3491G>C | XP_011520832.1:p.Gly1164Ala | |
| XM_011522531.1:c.3473G>C | XP_011520833.1:p.Gly1158Ala | |
| XM_011522532.1:c.3419G>C | XP_011520834.1:p.Gly1140Ala | |
| XM_011522533.1:c.3338G>C | XP_011520835.1:p.Gly1113Ala | |
| XM_011522534.1:c.3281G>C | XP_011520836.1:p.Gly1094Ala | |
| XM_011522535.1:c.1367G>C | XP_011520837.1:p.Gly456Ala | |
| XM_011522536.1:c.3545G>C | XP_011520838.1:p.Gly1182Ala | |
| XM_011522537.1:c.545G>C | XP_011520839.1:p.Gly182Ala | |
| XR_932867.1:n.3560G>C | ||
| XR_932868.1:n.3560G>C | ||
| XR_932869.1:n.3560G>C | ||
| XR_932870.1:n.3560G>C | ||
| XM_005255370.3:c.422G>C | XP_005255427.1:p.Gly141Ala | |
| XM_011522528.3:c.3521G>C | XP_011520830.1:p.Gly1174Ala | |
| XM_011522529.2:c.3521G>C | XP_011520831.1:p.Gly1174Ala | |
| XM_011522537.2:c.545G>C | XP_011520839.1:p.Gly182Ala | |
| XM_024450298.1:c.3587G>C | XP_024306066.1:p.Gly1196Ala | |
| XM_024450299.1:c.3515G>C | XP_024306067.1:p.Gly1172Ala | |
| XM_024450300.1:c.3377G>C | XP_024306068.1:p.Gly1126Ala | |
| XM_024450301.1:c.1463G>C | XP_024306069.1:p.Gly488Ala | |
| NM_000296.4:c.3467G>C | NP_000287.4:p.Gly1156Ala | |
| NM_001009944.3:c.3467G>C MANE Select | NP_001009944.3:p.Gly1156Ala |