Linked Data
ClinVar Variation Id:
634441
dbSNP Id:
rs768473049
ExAC:
6:45514855 C / T
gnomAD v2:
6-45514855-C-T
gnomAD v3:
6-45547118-C-T
gnomAD v4:
6-45547118-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.45547118C>T , CM000668.2:g.45547118C>T | GRCh38 |
| NC_000006.11:g.45514855C>T , CM000668.1:g.45514855C>T | GRCh37 |
| NC_000006.10:g.45622833C>T | NCBI36 |
| NG_008020.1:g.223802C>T | |
| NG_008020.2:g.223802C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646519.1:c.*536C>T | ENSP00000496517.1:n.*536C>T | |
| ENST00000647337.2:c.1379C>T MANE Select | ENSP00000495497.1:p.Pro460Leu | |
| ENST00000359524.7:c.1337C>T | ENSP00000352514.5:p.Pro446Leu | |
| ENST00000371432.7:c.1313C>T | ENSP00000360486.4:p.Pro438Leu | |
| ENST00000371436.10:c.1313C>T | ENSP00000360491.6:p.Pro438Leu | |
| ENST00000371438.5:c.1379C>T | ENSP00000360493.1:p.Pro460Leu | |
| ENST00000465038.6:c.1379C>T | ENSP00000420707.2:p.Pro460Leu | |
| ENST00000478660.6:c.*178+33465C>T | ENSP00000460188.1:n.*178+33465C>T | |
| ENST00000483377.5:c.*900C>T | ENSP00000461357.1:n.*900C>T | |
| ENST00000576263.5:c.1021+34711C>T | ENSP00000458178.1:n.1021+34711C>T | |
| ENST00000625924.1:c.1271C>T | ENSP00000485863.1:p.Pro424Leu | |
| NM_001015051.3:c.1313C>T | NP_001015051.3:p.Pro438Leu | |
| NM_001024630.3:c.1379C>T | NP_001019801.3:p.Pro460Leu | |
| NM_001278478.1:c.1271C>T | NP_001265407.1:p.Pro424Leu | |
| XM_006715232.1:c.1163C>T | XP_006715295.1:p.Pro388Leu | |
| XM_011514960.1:c.1225+34711C>T | XP_011513262.1:n.1225+34711C>T | |
| XM_011514961.1:c.1583C>T | XP_011513263.1:p.Pro528Leu | |
| XM_011514962.1:c.1517C>T | XP_011513264.1:p.Pro506Leu | |
| XM_011514963.1:c.1051+34711C>T | XP_011513265.1:n.1051+34711C>T | |
| XM_011514964.1:c.1435+148C>T | XP_011513266.1:n.1435+148C>T | |
| XM_011514966.1:c.553+34711C>T | XP_011513268.1:n.553+34711C>T | |
| NM_001024630.4:c.1379C>T MANE Select | NP_001019801.3:p.Pro460Leu | |
| NM_001278478.2:c.1271C>T | NP_001265407.1:p.Pro424Leu | |
| NM_001369405.1:c.1337C>T | NP_001356334.1:p.Pro446Leu | |
| NM_001015051.4:c.1313C>T | NP_001015051.3:p.Pro438Leu |