Linked Data
ClinVar Variation Id:
9305
ClinVar RCV Id:
RCV000009889
dbSNP Id:
rs104893994
PubMed:
PMID:12081718
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45547304G>C , CM000668.2:g.45547304G>C | GRCh38 |
| NC_000006.11:g.45515041G>C , CM000668.1:g.45515041G>C | GRCh37 |
| NC_000006.10:g.45623019G>C | NCBI36 |
| NG_008020.1:g.223988G>C | |
| NG_008020.2:g.223988G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646519.1:c.*722G>C | ENSP00000496517.1:n.*722G>C | |
| ENST00000647337.2:c.1565G>C MANE Select | ENSP00000495497.1:p.Ter522Ser | |
| ENST00000359524.7:c.1523G>C | ENSP00000352514.5:p.Ter508Ser | |
| ENST00000371432.7:c.1499G>C | ENSP00000360486.4:p.Ter500Ser | |
| ENST00000371436.10:c.1499G>C | ENSP00000360491.6:p.Ter500Ser | |
| ENST00000371438.5:c.1565G>C | ENSP00000360493.1:p.Ter522Ser | |
| ENST00000465038.6:c.1565G>C | ENSP00000420707.2:p.Ter522Ser | |
| ENST00000478660.6:c.*178+33651G>C | ENSP00000460188.1:n.*178+33651G>C | |
| ENST00000576263.5:c.1021+34897G>C | ENSP00000458178.1:n.1021+34897G>C | |
| ENST00000625924.1:c.1457G>C | ENSP00000485863.1:p.Ter486Ser | |
| NM_001015051.3:c.1499G>C | NP_001015051.3:p.Ter500Ser | |
| NM_001024630.3:c.1565G>C | NP_001019801.3:p.Ter522Ser | |
| NM_001278478.1:c.1457G>C | NP_001265407.1:p.Ter486Ser | |
| XM_006715232.1:c.1349G>C | XP_006715295.1:p.Ter450Ser | |
| XM_011514960.1:c.1225+34897G>C | XP_011513262.1:n.1225+34897G>C | |
| XM_011514961.1:c.1769G>C | XP_011513263.1:p.Ter590Ser | |
| XM_011514962.1:c.1703G>C | XP_011513264.1:p.Ter568Ser | |
| XM_011514963.1:c.1051+34897G>C | XP_011513265.1:n.1051+34897G>C | |
| XM_011514964.1:c.1435+334G>C | XP_011513266.1:n.1435+334G>C | |
| XM_011514966.1:c.553+34897G>C | XP_011513268.1:n.553+34897G>C | |
| NM_001024630.4:c.1565G>C MANE Select | NP_001019801.3:p.Ter522Ser | |
| NM_001278478.2:c.1457G>C | NP_001265407.1:p.Ter486Ser | |
| NM_001369405.1:c.1523G>C | NP_001356334.1:p.Ter508Ser | |
| NM_001015051.4:c.1499G>C | NP_001015051.3:p.Ter500Ser |