Linked Data
ClinVar Variation Id:
1603313
ClinVar RCV Id:
RCV002141943
dbSNP Id:
rs2143664918
MyVariant Identifiers:
chr16:g.56370670T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336758T>G , CM000678.2:g.56336758T>G | GRCh38 |
| NC_000016.9:g.56370670T>G , CM000678.1:g.56370670T>G | GRCh37 |
| NC_000016.8:g.54928171T>G | NCBI36 |
| NG_042800.1:g.150420T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.621T>G | ENSP00000262494.7:p.Ser207= | |
| ENST00000262493.12:c.621T>G MANE Select | ENSP00000262493.6:p.Ser207= | |
| ENST00000262494.12:c.621T>G | ENSP00000262494.7:p.Ser207= | |
| ENST00000562316.6:c.288T>G | ENSP00000457238.2:p.Ser96= | |
| ENST00000568375.2:c.13T>G | ||
| ENST00000638185.1:n.836T>G | ||
| ENST00000638210.1:n.921T>G | ||
| ENST00000638705.1:c.621T>G | ENSP00000491223.1:p.Ser207= | |
| ENST00000638836.1:n.531T>G | ||
| ENST00000639055.1:n.1342T>G | ||
| ENST00000639251.1:n.522T>G | ||
| ENST00000639268.1:c.256T>G | ||
| ENST00000639341.1:c.146T>G | ||
| ENST00000639770.1:c.659T>G | ENSP00000491999.1:n.659T>G | |
| ENST00000640390.1:n.551T>G | ||
| ENST00000640560.1:n.397T>G | ||
| ENST00000640893.1:c.*19T>G | ENSP00000492677.1:n.*19T>G | |
| ENST00000262493.10:c.621T>G | ENSP00000262493.6:p.Ser207= | |
| ENST00000262494.11:c.621T>G | ENSP00000262494.7:p.Ser207= | |
| ENST00000568375.1:n.13T>G | ||
| NM_020988.2:c.621T>G | NP_066268.1:p.Ser207= | |
| NM_138736.2:c.621T>G | NP_620073.2:p.Ser207= | |
| XM_011523003.1:c.495T>G | XP_011521305.1:p.Ser165= | |
| XM_011523003.3:c.495T>G | XP_011521305.1:p.Ser165= | |
| NM_020988.3:c.621T>G MANE Select | NP_066268.1:p.Ser207= | |
| NM_138736.3:c.621T>G | NP_620073.2:p.Ser207= |