Linked Data
ClinVar Variation Id:
374889
ClinVar RCV Id:
RCV000415546
dbSNP Id:
rs1057519292
PubMed:
PMID:28137957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17004805G>A , CM000663.2:g.17004805G>A | GRCh38 |
| NC_000001.10:g.17331300G>A , CM000663.1:g.17331300G>A | GRCh37 |
| NC_000001.9:g.17203887G>A | NCBI36 |
| NG_009054.1:g.12124C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.364C>T MANE Select | ENSP00000327214.8:p.Gln122Ter | |
| ENST00000326735.12:c.364C>T | ENSP00000327214.8:p.Gln122Ter | |
| ENST00000341676.9:c.364C>T | ENSP00000341115.5:p.Gln122Ter | |
| ENST00000452699.5:c.364C>T | ENSP00000413307.1:p.Gln122Ter | |
| ENST00000508222.5:c.98C>T | ||
| ENST00000509619.1:c.341C>T | ||
| ENST00000510069.5:c.290C>T | ||
| ENST00000511957.5:c.76C>T | ENSP00000427241.1:p.Gln26Ter | |
| ENST00000617114.4:c.-483C>T | ENSP00000478781.1:n.-483C>T | |
| NM_001141973.2:c.364C>T | NP_001135445.1:p.Gln122Ter | |
| NM_001141974.2:c.364C>T | NP_001135446.1:p.Gln122Ter | |
| NM_022089.3:c.364C>T | NP_071372.1:p.Gln122Ter | |
| XM_005245809.1:c.364C>T | XP_005245866.1:p.Gln122Ter | |
| XM_005245810.1:c.364C>T | XP_005245867.1:p.Gln122Ter | |
| XM_005245811.1:c.364C>T | XP_005245868.1:p.Gln122Ter | |
| XM_005245812.1:c.364C>T | XP_005245869.1:p.Gln122Ter | |
| XM_005245813.1:c.364C>T | XP_005245870.1:p.Gln122Ter | |
| XM_005245815.1:c.364C>T | XP_005245872.1:p.Gln122Ter | |
| XM_006710512.1:c.364C>T | XP_006710575.1:p.Gln122Ter | |
| XM_006710513.1:c.364C>T | XP_006710576.1:p.Gln122Ter | |
| XM_011541128.1:c.364C>T | XP_011539430.1:p.Gln122Ter | |
| XM_011541129.1:c.364C>T | XP_011539431.1:p.Gln122Ter | |
| XM_017000844.1:c.364C>T | XP_016856333.1:p.Gln122Ter | |
| XM_017000845.1:c.364C>T | XP_016856334.1:p.Gln122Ter | |
| XM_017000846.1:c.364C>T | XP_016856335.1:p.Gln122Ter | |
| XM_017000847.1:c.364C>T | XP_016856336.1:p.Gln122Ter | |
| XM_017000848.1:c.364C>T | XP_016856337.1:p.Gln122Ter | |
| XM_017000849.1:c.364C>T | XP_016856338.1:p.Gln122Ter | |
| XM_017000850.1:c.364C>T | XP_016856339.1:p.Gln122Ter | |
| NM_022089.4:c.364C>T MANE Select | NP_071372.1:p.Gln122Ter | |
| NM_001141973.3:c.364C>T | NP_001135445.1:p.Gln122Ter | |
| NM_001141974.3:c.364C>T | NP_001135446.1:p.Gln122Ter |