Linked Data
ClinVar Variation Id:
501604
ClinVar RCV Id:
RCV000592946
dbSNP Id:
rs747749610
ExAC:
14:77901691 G / A
gnomAD v2:
14-77901691-G-A
gnomAD v4:
14-77435348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77435348G>A , CM000676.2:g.77435348G>A | GRCh38 |
| NC_000014.8:g.77901691G>A , CM000676.1:g.77901691G>A | GRCh37 |
| NC_000014.7:g.76971444G>A | NCBI36 |
| NG_023421.1:g.27293C>T | |
| NG_023421.2:g.27293C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557658.6:c.958C>T MANE Select | ENSP00000452191.1:p.Arg320Ter | |
| ENST00000327028.8:c.811C>T | ENSP00000313098.5:p.Arg271Ter | |
| ENST00000343765.6:c.958C>T | ENSP00000339122.2:p.Arg320Ter | |
| ENST00000448935.6:c.811C>T | ENSP00000404815.2:p.Arg271Ter | |
| ENST00000553576.5:n.370C>T | ||
| ENST00000553888.5:c.958C>T | ENSP00000452181.1:p.Arg320Ter | |
| ENST00000556412.4:c.1036C>T | ENSP00000451857.1:p.Arg346Ter | |
| ENST00000557658.5:c.958C>T | ENSP00000452191.1:p.Arg320Ter | |
| NM_001193314.1:c.958C>T | NP_001180243.1:p.Arg320Ter | |
| NM_001193315.1:c.958C>T | NP_001180244.1:p.Arg320Ter | |
| NM_001193316.1:c.811C>T | NP_001180245.1:p.Arg271Ter | |
| NM_001193317.1:c.958C>T | NP_001180246.1:p.Arg320Ter | |
| NM_022067.3:c.958C>T | NP_071350.2:p.Arg320Ter | |
| XM_011537066.1:c.865C>T | XP_011535368.1:p.Arg289Ter | |
| XM_011537066.2:c.865C>T | XP_011535368.1:p.Arg289Ter | |
| XM_017021580.2:c.958C>T | XP_016877069.1:p.Arg320Ter | |
| XM_017021581.2:c.958C>T | XP_016877070.1:p.Arg320Ter | |
| XM_024449688.1:c.865C>T | XP_024305456.1:p.Arg289Ter | |
| XR_001750501.2:n.1080C>T | ||
| NM_001193314.2:c.958C>T | NP_001180243.1:p.Arg320Ter | |
| NM_001193316.2:c.811C>T | NP_001180245.1:p.Arg271Ter | |
| NM_001193317.2:c.958C>T | NP_001180246.1:p.Arg320Ter | |
| NM_022067.4:c.958C>T | NP_071350.2:p.Arg320Ter | |
| NM_001193315.2:c.958C>T MANE Select | NP_001180244.1:p.Arg320Ter | |
| NM_001400324.1:c.811C>T | NP_001387253.1:p.Arg271Ter | |
| NM_001400325.1:c.811C>T | NP_001387254.1:p.Arg271Ter | |
| NM_001400326.1:c.958C>T | NP_001387255.1:p.Arg320Ter | |
| NM_001400327.1:c.925C>T | NP_001387256.1:p.Arg309Ter | |
| NM_001400330.1:c.958C>T | NP_001387259.1:p.Arg320Ter | |
| NM_001400331.1:c.958C>T | NP_001387260.1:p.Arg320Ter | |
| NM_001400332.1:c.958C>T | NP_001387261.1:p.Arg320Ter | |
| NM_001400333.1:c.865C>T | NP_001387262.1:p.Arg289Ter | |
| NM_001400334.1:c.865C>T | NP_001387263.1:p.Arg289Ter | |
| NM_001400335.1:c.958C>T | NP_001387264.1:p.Arg320Ter | |
| NM_001400336.1:c.912+496C>T | NP_001387265.1:n.912+496C>T | |
| NM_001400337.1:c.718C>T | NP_001387266.1:p.Arg240Ter | |
| NM_001400338.1:c.856C>T | NP_001387267.1:p.Arg286Ter | |
| NM_001400339.1:c.763-1045C>T | NP_001387268.1:n.763-1045C>T | |
| NR_174476.1:n.1065C>T |