Linked Data
dbSNP Id:
rs769342137
ExAC:
16:47730368 A / C
gnomAD v2:
16-47730368-A-C
gnomAD v4:
16-47696457-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47696457A>C , CM000678.2:g.47696457A>C | GRCh38 |
| NC_000016.9:g.47730368A>C , CM000678.1:g.47730368A>C | GRCh37 |
| NC_000016.8:g.46287869A>C | NCBI36 |
| NG_016598.1:g.240159A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*1546A>C | ENSP00000512887.1:n.*1546A>C | |
| ENST00000699276.1:c.*600A>C | ENSP00000514257.1:n.*600A>C | |
| ENST00000323584.10:c.2972A>C MANE Select | ENSP00000313504.5:p.Asp991Ala | |
| ENST00000299167.12:c.2972A>C | ENSP00000299167.8:p.Asp991Ala | |
| ENST00000323584.9:c.2972A>C | ENSP00000313504.5:p.Asp991Ala | |
| ENST00000566044.5:c.2951A>C | ENSP00000456729.1:p.Asp984Ala | |
| ENST00000566319.2:n.1788A>C | ||
| NM_000293.2:c.2972A>C | NP_000284.1:p.Asp991Ala | |
| NM_001031835.2:c.2951A>C | NP_001027005.1:p.Asp984Ala | |
| XM_005255983.3:c.2972A>C | XP_005256040.1:p.Asp991Ala | |
| XM_005255984.3:c.2951A>C | XP_005256041.1:p.Asp984Ala | |
| XM_011523107.1:c.1550A>C | XP_011521409.1:p.Asp517Ala | |
| NM_001363837.1:c.2972A>C | NP_001350766.1:p.Asp991Ala | |
| XM_005255983.4:c.2972A>C | XP_005256040.1:p.Asp991Ala | |
| XM_005255984.4:c.2951A>C | XP_005256041.1:p.Asp984Ala | |
| XM_017023282.1:c.1859A>C | XP_016878771.1:p.Asp620Ala | |
| XM_017023283.1:c.1550A>C | XP_016878772.1:p.Asp517Ala | |
| XM_017023284.1:c.1550A>C | XP_016878773.1:p.Asp517Ala | |
| XR_001751913.1:n.2896A>C | ||
| NM_000293.3:c.2972A>C MANE Select | NP_000284.1:p.Asp991Ala | |
| NM_001031835.3:c.2951A>C | NP_001027005.1:p.Asp984Ala |