Linked Data
ClinVar Variation Id:
1249967
ClinVar RCV Id:
RCV001650103
dbSNP Id:
rs3773506
gnomAD v2:
3-142431000-G-C
gnomAD v3:
3-142712158-G-C
gnomAD v4:
3-142712158-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142712158G>C , CM000665.2:g.142712158G>C | GRCh38 |
| NC_000003.11:g.142431000G>C , CM000665.1:g.142431000G>C | GRCh37 |
| NC_000003.10:g.143913690G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000457734.7:c.*151G>C MANE Select | ENSP00000387890.2:n.*151G>C | |
| ENST00000337777.7:c.*151G>C | ENSP00000336831.3:n.*151G>C | |
| ENST00000457734.6:c.*151G>C | ENSP00000387890.2:n.*151G>C | |
| NM_001145319.1:c.*151G>C | NP_001138791.1:n.*151G>C | |
| NM_001172312.1:c.*151G>C | NP_001165783.1:n.*151G>C | |
| NM_002670.2:c.*151G>C | NP_002661.2:n.*151G>C | |
| XM_006713660.2:c.*151G>C | XP_006713723.1:n.*151G>C | |
| XM_011512900.1:c.*151G>C | XP_011511202.1:n.*151G>C | |
| XM_011512901.1:c.*151G>C | XP_011511203.1:n.*151G>C | |
| XM_011512902.1:c.*151G>C | XP_011511204.1:n.*151G>C | |
| XM_011512903.1:c.*151G>C | XP_011511205.1:n.*151G>C | |
| XM_006713660.3:c.*151G>C | XP_006713723.1:n.*151G>C | |
| XM_011512900.2:c.*151G>C | XP_011511202.1:n.*151G>C | |
| XM_011512903.2:c.*151G>C | XP_011511205.1:n.*151G>C | |
| XM_017006626.1:c.*151G>C | XP_016862115.1:n.*151G>C | |
| XM_017006627.1:c.*151G>C | XP_016862116.1:n.*151G>C | |
| NM_001145319.2:c.*151G>C MANE Select | NP_001138791.1:n.*151G>C | |
| NM_002670.3:c.*151G>C | NP_002661.2:n.*151G>C | |
| NM_001172312.2:c.*151G>C | NP_001165783.1:n.*151G>C |