Linked Data
dbSNP Id:
rs766692377
ExAC:
16:31200511 T / C
gnomAD v2:
16-31200511-T-C
gnomAD v4:
16-31189190-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31189190T>C , CM000678.2:g.31189190T>C | GRCh38 |
| NC_000016.9:g.31200511T>C , CM000678.1:g.31200511T>C | GRCh37 |
| NC_000016.8:g.31108012T>C | NCBI36 |
| NG_012889.2:g.14059T>C , LRG_655:g.14059T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254108.12:c.900T>C MANE Select | ENSP00000254108.8:p.Ser300= | |
| ENST00000254108.11:c.900T>C | ENSP00000254108.7:p.Ser300= | |
| ENST00000380244.7:c.897T>C | ENSP00000369594.3:p.Ser299= | |
| ENST00000474990.5:n.194T>C | ||
| ENST00000487509.6:n.4075T>C | ||
| ENST00000564766.1:n.724T>C | ||
| ENST00000566605.5:c.*73T>C | ENSP00000455073.1:n.*73T>C | |
| ENST00000568685.1:c.903T>C | ENSP00000455282.1:p.Ser301= | |
| ENST00000568901.2:n.274T>C | ||
| NM_001170634.1:c.897T>C | NP_001164105.1:p.Ser299= | |
| NM_001170937.1:c.888T>C | NP_001164408.1:p.Ser296= | |
| NM_004960.3:c.900T>C , LRG_655t1:c.900T>C | NP_004951.1:p.Ser300= | |
| NR_028388.2:n.970T>C | ||
| XM_005255233.3:c.285T>C | XP_005255290.1:p.Ser95= | |
| XM_011545781.1:c.894T>C | XP_011544083.1:p.Ser298= | |
| XM_011545782.1:c.285T>C | XP_011544084.1:p.Ser95= | |
| XM_005255233.5:c.285T>C | XP_005255290.1:p.Ser95= | |
| XM_011545782.2:c.285T>C | XP_011544084.1:p.Ser95= | |
| XM_024450221.1:c.891T>C | XP_024305989.1:p.Ser297= | |
| NM_004960.4:c.900T>C MANE Select | NP_004951.1:p.Ser300= |