Linked Data
ClinVar Variation Id:
498683
dbSNP Id:
rs145453157
ExAC:
14:77894719 G / T
gnomAD v2:
14-77894719-G-T
gnomAD v3:
14-77428376-G-T
gnomAD v4:
14-77428376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77428376G>T , CM000676.2:g.77428376G>T | GRCh38 |
| NC_000014.8:g.77894719G>T , CM000676.1:g.77894719G>T | GRCh37 |
| NC_000014.7:g.76964472G>T | NCBI36 |
| NG_023421.1:g.34265C>A | |
| NG_023421.2:g.34265C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557658.6:c.1455C>A MANE Select | ENSP00000452191.1:p.Ser485Arg | |
| ENST00000327028.8:c.1308C>A | ENSP00000313098.5:p.Ser436Arg | |
| ENST00000343765.6:c.1455C>A | ENSP00000339122.2:p.Ser485Arg | |
| ENST00000448935.6:c.1308C>A | ENSP00000404815.2:p.Ser436Arg | |
| ENST00000553888.5:c.1455C>A | ENSP00000452181.1:p.Ser485Arg | |
| ENST00000556412.4:c.1533C>A | ENSP00000451857.1:p.Ser511Arg | |
| ENST00000557658.5:c.1455C>A | ENSP00000452191.1:p.Ser485Arg | |
| NM_001193314.1:c.1455C>A | NP_001180243.1:p.Ser485Arg | |
| NM_001193315.1:c.1455C>A | NP_001180244.1:p.Ser485Arg | |
| NM_001193316.1:c.1308C>A | NP_001180245.1:p.Ser436Arg | |
| NM_001193317.1:c.1455C>A | NP_001180246.1:p.Ser485Arg | |
| NM_022067.3:c.1455C>A | NP_071350.2:p.Ser485Arg | |
| XM_011537066.1:c.1362C>A | XP_011535368.1:p.Ser454Arg | |
| XM_011537066.2:c.1362C>A | XP_011535368.1:p.Ser454Arg | |
| XM_024449688.1:c.1362C>A | XP_024305456.1:p.Ser454Arg | |
| XR_001750501.2:n.1670C>A | ||
| NM_001193314.2:c.1455C>A | NP_001180243.1:p.Ser485Arg | |
| NM_001193316.2:c.1308C>A | NP_001180245.1:p.Ser436Arg | |
| NM_001193317.2:c.1455C>A | NP_001180246.1:p.Ser485Arg | |
| NM_022067.4:c.1455C>A | NP_071350.2:p.Ser485Arg | |
| NM_001193315.2:c.1455C>A MANE Select | NP_001180244.1:p.Ser485Arg | |
| NM_001400324.1:c.1308C>A | NP_001387253.1:p.Ser436Arg | |
| NM_001400325.1:c.1308C>A | NP_001387254.1:p.Ser436Arg | |
| NM_001400326.1:c.1455C>A | NP_001387255.1:p.Ser485Arg | |
| NM_001400327.1:c.1422C>A | NP_001387256.1:p.Ser474Arg | |
| NM_001400330.1:c.1368C>A | NP_001387259.1:p.Ser456Arg | |
| NM_001400331.1:c.1368C>A | NP_001387260.1:p.Ser456Arg | |
| NM_001400332.1:c.1368C>A | NP_001387261.1:p.Ser456Arg | |
| NM_001400333.1:c.1362C>A | NP_001387262.1:p.Ser454Arg | |
| NM_001400334.1:c.1362C>A | NP_001387263.1:p.Ser454Arg | |
| NM_001400335.1:c.1356+630C>A | NP_001387264.1:n.1356+630C>A | |
| NM_001400336.1:c.1320C>A | NP_001387265.1:p.Ser440Arg | |
| NM_001400337.1:c.1215C>A | NP_001387266.1:p.Ser405Arg | |
| NM_001400338.1:c.1176C>A | NP_001387267.1:p.Ser392Arg | |
| NM_001400339.1:c.1170C>A | NP_001387268.1:p.Ser390Arg | |
| NR_174476.1:n.1655C>A |