Linked Data
ClinVar Variation Id:
255450
ClinVar RCV Id:
RCV000245545
RCV000304980
RCV000361950
RCV000392843
RCV000542260
RCV001682960
RCV002494698
RCV004529422
dbSNP Id:
rs77084911
ExAC:
7:42079825 G / C
gnomAD v2:
7-42079825-G-C
gnomAD v3:
7-42040226-G-C
gnomAD v4:
7-42040226-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.42040226G>C , CM000669.2:g.42040226G>C | GRCh38 |
| NC_000007.13:g.42079825G>C , CM000669.1:g.42079825G>C | GRCh37 |
| NC_000007.12:g.42046350G>C | NCBI36 |
| NG_008434.1:g.201794C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.840C>G MANE Select | ENSP00000379258.3:p.Ser280= | |
| ENST00000677288.1:c.663C>G | ENSP00000503986.1:p.Ser221= | |
| ENST00000677605.1:c.840C>G | ENSP00000503743.1:p.Ser280= | |
| ENST00000678429.1:c.840C>G | ENSP00000502957.1:p.Ser280= | |
| ENST00000395925.7:c.840C>G | ENSP00000379258.3:p.Ser280= | |
| ENST00000479210.1:n.817C>G | ||
| NM_000168.5:c.840C>G | NP_000159.3:p.Ser280= | |
| XM_005249703.1:c.840C>G | XP_005249760.1:p.Ser280= | |
| XM_005249704.2:c.840C>G | XP_005249761.1:p.Ser280= | |
| XM_011515272.1:c.840C>G | XP_011513574.1:p.Ser280= | |
| XM_011515273.1:c.840C>G | XP_011513575.1:p.Ser280= | |
| XM_011515274.1:c.663C>G | XP_011513576.1:p.Ser221= | |
| XM_011515274.2:c.663C>G | XP_011513576.1:p.Ser221= | |
| XM_017011997.1:c.837C>G | XP_016867486.1:p.Ser279= | |
| NM_000168.6:c.840C>G MANE Select | NP_000159.3:p.Ser280= |