Linked Data
dbSNP Id:
rs867064468
gnomAD v3:
7-116771983-C-T
gnomAD v4:
7-116771983-C-T
COSMIC:
COSM5919365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116771983C>T , CM000669.2:g.116771983C>T | GRCh38 |
| NC_000007.13:g.116412037C>T , CM000669.1:g.116412037C>T | GRCh37 |
| NC_000007.12:g.116199273C>T | NCBI36 |
| NG_008996.1:g.104579C>T , LRG_662:g.104579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436117.3:c.*627C>T | ENSP00000410980.2:n.*627C>T | |
| ENST00000318493.11:c.3076C>T | ENSP00000317272.6:p.Pro1026Ser | |
| ENST00000397752.8:c.3022C>T MANE Select | ENSP00000380860.3:p.Pro1008Ser | |
| ENST00000318493.10:c.3076C>T | ENSP00000317272.6:p.Pro1026Ser | |
| ENST00000397752.7:c.3022C>T | ENSP00000380860.3:p.Pro1008Ser | |
| ENST00000454623.1:c.283+329C>T | ENSP00000398140.1:n.283+329C>T | |
| NM_000245.2:c.3022C>T | NP_000236.2:p.Pro1008Ser | |
| NM_001127500.1:c.3076C>T , LRG_662t1:c.3076C>T | NP_001120972.1:p.Pro1026Ser | |
| XM_006715990.2:c.1732C>T | XP_006716053.1:p.Pro578Ser | |
| XM_006715991.2:c.1732C>T | XP_006716054.1:p.Pro578Ser | |
| XM_011516223.1:c.3079C>T | XP_011514525.1:p.Pro1027Ser | |
| NM_000245.3:c.3022C>T | NP_000236.2:p.Pro1008Ser | |
| NM_001127500.2:c.3076C>T | NP_001120972.1:p.Pro1026Ser | |
| NM_001324402.1:c.1732C>T | NP_001311331.1:p.Pro578Ser | |
| XR_001744772.1:n.3153C>T | ||
| NM_001127500.3:c.3076C>T | NP_001120972.1:p.Pro1026Ser | |
| NM_000245.4:c.3022C>T MANE Select | NP_000236.2:p.Pro1008Ser | |
| NM_001324402.2:c.1732C>T | NP_001311331.1:p.Pro578Ser |