Linked Data
ClinVar Variation Id:
360162
ClinVar RCV Id:
RCV001709632
dbSNP Id:
rs3823720
gnomAD v2:
7-42001171-G-A
gnomAD v3:
7-41961573-G-A
gnomAD v4:
7-41961573-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41961573G>A , CM000669.2:g.41961573G>A | GRCh38 |
| NC_000007.13:g.42001171G>A , CM000669.1:g.42001171G>A | GRCh37 |
| NC_000007.12:g.41967696G>A | NCBI36 |
| NG_008434.1:g.280448C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000395925.8:c.*2757C>T MANE Select | ENSP00000379258.3:n.*2757C>T | |
| ENST00000677288.1:c.*2757C>T | ENSP00000503986.1:n.*2757C>T | |
| ENST00000677605.1:c.*2757C>T | ENSP00000503743.1:n.*2757C>T | |
| ENST00000678429.1:c.*2757C>T | ENSP00000502957.1:n.*2757C>T | |
| ENST00000395925.7:c.*2757C>T | ENSP00000379258.3:n.*2757C>T | |
| NM_000168.5:c.*2757C>T | NP_000159.3:n.*2757C>T | |
| XM_005249703.1:c.*2757C>T | XP_005249760.1:n.*2757C>T | |
| XM_005249704.2:c.*2757C>T | XP_005249761.1:n.*2757C>T | |
| XM_011515272.1:c.*2757C>T | XP_011513574.1:n.*2757C>T | |
| XM_011515273.1:c.*2757C>T | XP_011513575.1:n.*2757C>T | |
| XM_011515274.1:c.*2757C>T | XP_011513576.1:n.*2757C>T | |
| NM_000168.6:c.*2757C>T MANE Select | NP_000159.3:n.*2757C>T |