Linked Data
ClinVar Variation Id:
1444152
ClinVar RCV Id:
RCV001981684
dbSNP Id:
rs758205218
ExAC:
9:123723810 T / C
gnomAD v2:
9-123723810-T-C
gnomAD v3:
9-120961532-T-C
gnomAD v4:
9-120961532-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120961532T>C , CM000671.2:g.120961532T>C | GRCh38 |
| NC_000009.11:g.123723810T>C , CM000671.1:g.123723810T>C | GRCh37 |
| NC_000009.10:g.122763631T>C | NCBI36 |
| NG_007364.1:g.93745A>G , LRG_28:g.93745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480188.2:n.1572A>G | ||
| ENST00000696279.1:c.4858A>G | ||
| ENST00000696280.1:n.4627A>G | ||
| ENST00000696281.1:c.4556A>G | ENSP00000512521.1:p.Asn1519Ser | |
| ENST00000697921.1:n.3416A>G | ||
| ENST00000697922.1:c.*4528A>G | ENSP00000513478.1:n.*4528A>G | |
| ENST00000697923.1:n.4983A>G | ||
| ENST00000223642.3:c.4538A>G MANE Select | ENSP00000223642.1:p.Asn1513Ser | |
| ENST00000223642.2:c.4538A>G | ENSP00000223642.1:p.Asn1513Ser | |
| ENST00000480188.1:n.71A>G | ||
| NM_001735.2:c.4538A>G , LRG_28t1:c.4538A>G | NP_001726.2:p.Asn1513Ser | |
| XM_011518980.1:c.4553A>G | XP_011517282.1:p.Asn1518Ser | |
| NM_001317163.1:c.4556A>G | NP_001304092.1:p.Asn1519Ser | |
| NM_001317163.2:c.4556A>G | NP_001304092.1:p.Asn1519Ser | |
| NM_001735.3:c.4538A>G MANE Select | NP_001726.2:p.Asn1513Ser |