Linked Data
dbSNP Id:
rs780959653
ExAC:
16:2156653 T / C
gnomAD v2:
16-2156653-T-C
gnomAD v4:
16-2106652-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106652T>C , CM000678.2:g.2106652T>C | GRCh38 |
| NC_000016.9:g.2156653T>C , CM000678.1:g.2156653T>C | GRCh37 |
| NC_000016.8:g.2096654T>C | NCBI36 |
| NG_008617.1:g.34247A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7235A>G MANE Select | ENSP00000262304.4:p.Asn2412Ser | |
| ENST00000262304.8:c.7235A>G | ENSP00000262304.4:p.Asn2412Ser | |
| ENST00000415938.7:n.480A>G | ||
| ENST00000423118.5:c.7235A>G | ENSP00000399501.1:p.Asn2412Ser | |
| ENST00000483024.1:c.403A>G | ||
| ENST00000483558.5:n.294A>G | ||
| ENST00000483731.5:n.960A>G | ||
| ENST00000486339.6:n.981A>G | ||
| ENST00000487932.5:c.1922A>G | ENSP00000457132.1:p.Asn641Ser | |
| ENST00000496574.6:n.1238A>G | ||
| ENST00000565639.6:n.943A>G | ||
| ENST00000568591.5:c.2396A>G | ENSP00000457162.1:n.2396A>G | |
| ENST00000569983.5:n.591A>G | ||
| NM_000296.3:c.7235A>G | NP_000287.3:p.Asn2412Ser | |
| NM_001009944.2:c.7235A>G | NP_001009944.2:p.Asn2412Ser | |
| XM_005255370.2:c.4190A>G | XP_005255427.1:p.Asn1397Ser | |
| XM_011522525.1:c.7313A>G | XP_011520827.1:p.Asn2438Ser | |
| XM_011522526.1:c.7313A>G | XP_011520828.1:p.Asn2438Ser | |
| XM_011522527.1:c.7313A>G | XP_011520829.1:p.Asn2438Ser | |
| XM_011522528.1:c.7289A>G | XP_011520830.1:p.Asn2430Ser | |
| XM_011522529.1:c.7289A>G | XP_011520831.1:p.Asn2430Ser | |
| XM_011522530.1:c.7259A>G | XP_011520832.1:p.Asn2420Ser | |
| XM_011522531.1:c.7241A>G | XP_011520833.1:p.Asn2414Ser | |
| XM_011522532.1:c.7187A>G | XP_011520834.1:p.Asn2396Ser | |
| XM_011522533.1:c.7106A>G | XP_011520835.1:p.Asn2369Ser | |
| XM_011522534.1:c.7049A>G | XP_011520836.1:p.Asn2350Ser | |
| XM_011522535.1:c.5135A>G | XP_011520837.1:p.Asn1712Ser | |
| XM_011522536.1:c.7313A>G | XP_011520838.1:p.Asn2438Ser | |
| XM_011522537.1:c.4313A>G | XP_011520839.1:p.Asn1438Ser | |
| XR_932867.1:n.7328A>G | ||
| XR_932868.1:n.7328A>G | ||
| XR_932869.1:n.7328A>G | ||
| XR_932870.1:n.7328A>G | ||
| XM_005255370.3:c.4190A>G | XP_005255427.1:p.Asn1397Ser | |
| XM_011522528.3:c.7289A>G | XP_011520830.1:p.Asn2430Ser | |
| XM_011522529.2:c.7289A>G | XP_011520831.1:p.Asn2430Ser | |
| XM_011522537.2:c.4313A>G | XP_011520839.1:p.Asn1438Ser | |
| XM_024450298.1:c.7355A>G | XP_024306066.1:p.Asn2452Ser | |
| XM_024450299.1:c.7283A>G | XP_024306067.1:p.Asn2428Ser | |
| XM_024450300.1:c.7145A>G | XP_024306068.1:p.Asn2382Ser | |
| XM_024450301.1:c.5231A>G | XP_024306069.1:p.Asn1744Ser | |
| NM_000296.4:c.7235A>G | NP_000287.4:p.Asn2412Ser | |
| NM_001009944.3:c.7235A>G MANE Select | NP_001009944.3:p.Asn2412Ser |