Linked Data
ClinVar Variation Id:
3015674
ClinVar RCV Id:
RCV003873761
dbSNP Id:
rs1421970328
gnomAD v2:
6-45514929-C-T
gnomAD v4:
6-45547192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45547192C>T , CM000668.2:g.45547192C>T | GRCh38 |
| NC_000006.11:g.45514929C>T , CM000668.1:g.45514929C>T | GRCh37 |
| NC_000006.10:g.45622907C>T | NCBI36 |
| NG_008020.1:g.223876C>T | |
| NG_008020.2:g.223876C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.*610C>T | ENSP00000496517.1:n.*610C>T | |
| ENST00000647337.2:c.1453C>T MANE Select | ENSP00000495497.1:p.Pro485Ser | |
| ENST00000359524.7:c.1411C>T | ENSP00000352514.5:p.Pro471Ser | |
| ENST00000371432.7:c.1387C>T | ENSP00000360486.4:p.Pro463Ser | |
| ENST00000371436.10:c.1387C>T | ENSP00000360491.6:p.Pro463Ser | |
| ENST00000371438.5:c.1453C>T | ENSP00000360493.1:p.Pro485Ser | |
| ENST00000465038.6:c.1453C>T | ENSP00000420707.2:p.Pro485Ser | |
| ENST00000478660.6:c.*178+33539C>T | ENSP00000460188.1:n.*178+33539C>T | |
| ENST00000483377.5:c.*974C>T | ENSP00000461357.1:n.*974C>T | |
| ENST00000576263.5:c.1021+34785C>T | ENSP00000458178.1:n.1021+34785C>T | |
| ENST00000625924.1:c.1345C>T | ENSP00000485863.1:p.Pro449Ser | |
| NM_001015051.3:c.1387C>T | NP_001015051.3:p.Pro463Ser | |
| NM_001024630.3:c.1453C>T | NP_001019801.3:p.Pro485Ser | |
| NM_001278478.1:c.1345C>T | NP_001265407.1:p.Pro449Ser | |
| XM_006715232.1:c.1237C>T | XP_006715295.1:p.Pro413Ser | |
| XM_011514960.1:c.1225+34785C>T | XP_011513262.1:n.1225+34785C>T | |
| XM_011514961.1:c.1657C>T | XP_011513263.1:p.Pro553Ser | |
| XM_011514962.1:c.1591C>T | XP_011513264.1:p.Pro531Ser | |
| XM_011514963.1:c.1051+34785C>T | XP_011513265.1:n.1051+34785C>T | |
| XM_011514964.1:c.1435+222C>T | XP_011513266.1:n.1435+222C>T | |
| XM_011514966.1:c.553+34785C>T | XP_011513268.1:n.553+34785C>T | |
| NM_001024630.4:c.1453C>T MANE Select | NP_001019801.3:p.Pro485Ser | |
| NM_001278478.2:c.1345C>T | NP_001265407.1:p.Pro449Ser | |
| NM_001369405.1:c.1411C>T | NP_001356334.1:p.Pro471Ser | |
| NM_001015051.4:c.1387C>T | NP_001015051.3:p.Pro463Ser |