Linked Data
ClinVar Variation Id:
156358
ClinVar RCV Id:
RCV000144442
dbSNP Id:
rs676785
ExAC:
1:25735202 G / A
gnomAD v2:
1-25735202-G-A
gnomAD v3:
1-25408711-G-A
gnomAD v4:
1-25408711-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25408711G>A , CM000663.2:g.25408711G>A | GRCh38 |
| NC_000001.10:g.25735202G>A , CM000663.1:g.25735202G>A | GRCh37 |
| NC_000001.9:g.25607789G>A | NCBI36 |
| NG_009208.3:g.26482C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294413.13:c.307C>T MANE Select | ENSP00000294413.6:p.Pro103Ser | |
| ENST00000243186.10:c.307C>T | ENSP00000243186.7:p.Pro103Ser | |
| ENST00000294413.11:c.307C>T | ENSP00000294413.6:p.Pro103Ser | |
| ENST00000340849.8:c.307C>T | ENSP00000345084.4:p.Pro103Ser | |
| ENST00000346452.8:c.307C>T | ENSP00000344485.4:p.Pro103Ser | |
| ENST00000349320.7:c.259C>T | ENSP00000311185.4:p.Pro87Ser | |
| ENST00000349438.8:c.307C>T | ENSP00000334570.5:p.Pro103Ser | |
| ENST00000374352.6:c.307C>T | ENSP00000363472.3:p.Pro103Ser | |
| ENST00000413854.5:c.307C>T | ENSP00000415417.2:p.Pro103Ser | |
| ENST00000495048.1:n.413C>T | ||
| ENST00000527187.5:n.462C>T | ||
| ENST00000533771.1:c.149-5965C>T | ENSP00000435401.1:n.149-5965C>T | |
| NM_020485.4:c.307C>T | NP_065231.3:p.Pro103Ser | |
| NM_138616.3:c.307C>T | NP_619522.3:p.Pro103Ser | |
| NM_138617.3:c.307C>T | NP_619523.3:p.Pro103Ser | |
| NM_138618.3:c.307C>T | NP_619524.3:p.Pro103Ser | |
| XM_005245957.2:c.307C>T | XP_005246014.1:p.Pro103Ser | |
| XM_006710810.2:c.307C>T | XP_006710873.1:p.Pro103Ser | |
| XM_011541888.1:c.187C>T | XP_011540190.1:p.Pro63Ser | |
| XM_011541889.1:c.178C>T | XP_011540191.1:p.Pro60Ser | |
| XM_011541890.1:c.307C>T | XP_011540192.1:p.Pro103Ser | |
| XM_011541891.1:c.139C>T | XP_011540193.1:p.Pro47Ser | |
| NM_001330430.2:c.307C>T | NP_001317359.1:p.Pro103Ser | |
| NM_020485.5:c.307C>T | NP_065231.3:p.Pro103Ser | |
| NM_138616.4:c.307C>T | NP_619522.3:p.Pro103Ser | |
| NM_138617.4:c.307C>T | NP_619523.3:p.Pro103Ser | |
| NM_138618.5:c.307C>T | NP_619524.5:p.Pro103Ser | |
| XM_005245957.4:c.307C>T | XP_005246014.1:p.Pro103Ser | |
| XM_006710810.3:c.307C>T | XP_006710873.1:p.Pro103Ser | |
| XM_011541888.3:c.187C>T | XP_011540190.1:p.Pro63Ser | |
| XM_011541889.3:c.412C>T | XP_011540191.2:p.Pro138Ser | |
| XM_011541891.3:c.139C>T | XP_011540193.1:p.Pro47Ser | |
| XM_017002014.2:c.307C>T | XP_016857503.1:p.Pro103Ser | |
| NM_001330430.4:c.307C>T | NP_001317359.1:p.Pro103Ser | |
| NM_020485.7:c.-4294966950C>T | ||
| NM_138616.5:c.307C>T | NP_619522.3:p.Pro103Ser | |
| NM_138617.5:c.307C>T | NP_619523.3:p.Pro103Ser | |
| NM_138618.6:c.307C>T | NP_619524.5:p.Pro103Ser | |
| NM_020485.8:c.307C>T MANE Select | NP_065231.4:p.Pro103Ser |