Linked Data
ClinVar Variation Id:
392235
dbSNP Id:
rs773380068
ExAC:
6:70961967 G / A
gnomAD v2:
6-70961967-G-A
gnomAD v3:
6-70252264-G-A
gnomAD v4:
6-70252264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70252264G>A , CM000668.2:g.70252264G>A | GRCh38 |
| NC_000006.11:g.70961967G>A , CM000668.1:g.70961967G>A | GRCh37 |
| NC_000006.10:g.71018688G>A | NCBI36 |
| NG_011654.1:g.55820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683980.2:c.1117C>T | ENSP00000506990.1:p.Pro373Ser | |
| ENST00000360859.12:n.502C>T | ||
| ENST00000493682.7:n.1810C>T | ||
| ENST00000683602.1:n.2553C>T | ||
| ENST00000683758.1:c.1087C>T | ENSP00000508147.1:p.Pro363Ser | |
| ENST00000683980.1:c.1117C>T | ENSP00000506990.1:p.Pro373Ser | |
| ENST00000684176.1:n.1158C>T | ||
| ENST00000320755.12:c.1087C>T | ENSP00000315252.7:p.Pro363Ser | |
| ENST00000357250.11:c.1816C>T MANE Select | ENSP00000349790.6:p.Pro606Ser | |
| ENST00000360859.11:n.502C>T | ||
| ENST00000644493.1:c.*853C>T | ENSP00000495638.1:n.*853C>T | |
| ENST00000320755.11:c.1087C>T | ENSP00000315252.7:p.Pro363Ser | |
| ENST00000357250.10:c.1816C>T | ENSP00000349790.6:p.Pro606Ser | |
| ENST00000360859.10:n.462C>T | ||
| ENST00000447041.6:n.213C>T | ||
| ENST00000489611.5:n.908C>T | ||
| ENST00000489861.2:n.233C>T | ||
| ENST00000493682.6:n.789C>T | ||
| NM_001851.4:c.1816C>T | NP_001842.3:p.Pro606Ser | |
| NM_078485.3:c.1087C>T | NP_511040.2:p.Pro363Ser | |
| XM_011535429.1:c.1846C>T | XP_011533731.1:p.Pro616Ser | |
| XM_011535430.1:c.1117C>T | XP_011533732.1:p.Pro373Ser | |
| XM_011535431.1:c.508C>T | XP_011533733.1:p.Pro170Ser | |
| XM_011535429.3:c.1846C>T | XP_011533731.1:p.Pro616Ser | |
| XM_011535430.3:c.1117C>T | XP_011533732.1:p.Pro373Ser | |
| XM_017010246.2:c.1297C>T | XP_016865735.1:p.Pro433Ser | |
| XM_017010247.2:c.565C>T | XP_016865736.1:p.Pro189Ser | |
| NM_001377289.1:c.1117C>T | NP_001364218.1:p.Pro373Ser | |
| NM_001377290.1:c.1087C>T | NP_001364219.1:p.Pro363Ser | |
| NM_001851.5:c.1816C>T | NP_001842.3:p.Pro606Ser | |
| NM_078485.4:c.1087C>T | NP_511040.2:p.Pro363Ser | |
| NR_165185.1:n.1337C>T | ||
| NM_001851.6:c.1816C>T MANE Select | NP_001842.3:p.Pro606Ser |