Linked Data
ClinVar Variation Id:
1052148
ClinVar RCV Id:
RCV001360276
dbSNP Id:
rs2126695378
gnomAD v4:
5-13752276-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13752276T>G , CM000667.2:g.13752276T>G | GRCh38 |
| NC_000005.9:g.13752385T>G , CM000667.1:g.13752385T>G | GRCh37 |
| NC_000005.8:g.13805385T>G | NCBI36 |
| NG_013081.1:g.197205A>C | |
| NG_013081.2:g.197205A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10886A>C MANE Select | ENSP00000265104.4:p.Asn3629Thr | |
| ENST00000681290.1:c.10841A>C | ENSP00000505288.1:p.Asn3614Thr | |
| ENST00000265104.4:c.10886A>C | ENSP00000265104.4:p.Asn3629Thr | |
| NM_001369.2:c.10886A>C | NP_001360.1:p.Asn3629Thr | |
| XM_005248262.2:c.10841A>C | XP_005248319.1:p.Asn3614Thr | |
| XM_005248262.3:c.10994A>C | XP_005248319.2:p.Asn3665Thr | |
| XM_017009177.1:c.10994A>C | XP_016864666.1:p.Asn3665Thr | |
| XM_017009178.1:c.9899A>C | XP_016864667.1:p.Asn3300Thr | |
| XM_017009179.2:c.9899A>C | XP_016864668.1:p.Asn3300Thr | |
| XM_017009180.1:c.10994A>C | XP_016864669.1:p.Asn3665Thr | |
| XM_017009181.1:c.10994A>C | XP_016864670.1:p.Asn3665Thr | |
| XM_017009182.1:c.10994A>C | XP_016864671.1:p.Asn3665Thr | |
| XM_017009185.1:c.6083A>C | XP_016864674.1:p.Asn2028Thr | |
| XM_017009186.1:c.5636A>C | XP_016864675.1:p.Asn1879Thr | |
| XM_017009188.1:c.4973A>C | XP_016864677.1:p.Asn1658Thr | |
| XM_024454388.1:c.9899A>C | XP_024310156.1:p.Asn3300Thr | |
| XM_024454389.1:c.9488A>C | XP_024310157.1:p.Asn3163Thr | |
| NM_001369.3:c.10886A>C MANE Select | NP_001360.1:p.Asn3629Thr |