Linked Data
ClinVar Variation Id:
296934
dbSNP Id:
rs202234129
gnomAD v2:
1-247581981-T-C
gnomAD v3:
1-247418679-T-C
gnomAD v4:
1-247418679-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.247418679T>C , CM000663.2:g.247418679T>C | GRCh38 |
| NC_000001.10:g.247581981T>C , CM000663.1:g.247581981T>C | GRCh37 |
| NC_000001.9:g.245648604T>C | NCBI36 |
| NG_007509.2:g.7507T>C , LRG_197:g.7507T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697350.1:c.-44-78T>C | ENSP00000513275.1:n.-44-78T>C | |
| ENST00000336119.8:c.-122T>C MANE Select | ENSP00000337383.4:n.-122T>C | |
| ENST00000348069.7:c.-122T>C | ENSP00000294752.4:n.-122T>C | |
| ENST00000366496.7:c.-122T>C | ENSP00000355452.3:n.-122T>C | |
| ENST00000391827.3:c.-122T>C | ENSP00000375703.3:n.-122T>C | |
| ENST00000391828.8:c.-44-78T>C | ENSP00000375704.4:n.-44-78T>C | |
| ENST00000474792.2:c.-122T>C | ENSP00000493937.2:n.-122T>C | |
| ENST00000336119.7:c.-116T>C | ENSP00000337383.3:n.-116T>C | |
| ENST00000348069.6:c.-116T>C | ENSP00000294752.3:n.-116T>C | |
| ENST00000366496.6:c.-116T>C | ENSP00000355452.2:n.-116T>C | |
| ENST00000366497.6:c.-116T>C | ENSP00000355453.2:n.-116T>C | |
| ENST00000391828.7:c.-38-78T>C | ENSP00000375704.3:n.-38-78T>C | |
| ENST00000474792.1:n.60T>C | ||
| NM_001079821.2:c.-38-78T>C | NP_001073289.1:n.-38-78T>C | |
| NM_001127461.2:c.-116T>C | NP_001120933.1:n.-116T>C | |
| NM_001127462.2:c.-116T>C | NP_001120934.1:n.-116T>C | |
| NM_001243133.1:c.-122T>C | NP_001230062.1:n.-122T>C | |
| NM_004895.4:c.-116T>C , LRG_197t1:c.-116T>C | NP_004886.3:n.-116T>C | |
| NM_183395.2:c.-116T>C | NP_899632.1:n.-116T>C | |
| XM_005273036.2:c.-116T>C | XP_005273093.1:n.-116T>C | |
| XM_005273037.2:c.-93-23T>C | XP_005273094.1:n.-93-23T>C | |
| XM_011544048.1:c.-116T>C | XP_011542350.1:n.-116T>C | |
| XM_011544049.1:c.-116T>C | XP_011542351.1:n.-116T>C | |
| XM_011544050.1:c.-116T>C | XP_011542352.1:n.-116T>C | |
| XM_011544051.1:c.-38-78T>C | XP_011542353.1:n.-38-78T>C | |
| XM_011544052.1:c.-116T>C | XP_011542354.1:n.-116T>C | |
| XM_011544053.1:c.-116T>C | XP_011542355.1:n.-116T>C | |
| XM_011544054.1:c.-116T>C | XP_011542356.1:n.-116T>C | |
| XM_011544055.1:c.-116T>C | XP_011542357.1:n.-116T>C | |
| XM_011544048.2:c.-116T>C | XP_011542350.1:n.-116T>C | |
| XM_017000181.1:c.-93-23T>C | XP_016855670.1:n.-93-23T>C | |
| XM_017000182.1:c.-38-78T>C | XP_016855671.1:n.-38-78T>C | |
| XM_017000183.1:c.-116T>C | XP_016855672.1:n.-116T>C | |
| XM_017000184.1:c.-116T>C | XP_016855673.1:n.-116T>C | |
| XM_024452862.1:c.-116T>C | XP_024308630.1:n.-116T>C | |
| XM_024452874.1:c.-116T>C | XP_024308642.1:n.-116T>C | |
| NM_001079821.3:c.-44-78T>C | NP_001073289.2:n.-44-78T>C | |
| NM_001127461.3:c.-122T>C | NP_001120933.2:n.-122T>C | |
| NM_001127462.3:c.-122T>C | NP_001120934.2:n.-122T>C | |
| NM_001243133.2:c.-122T>C MANE Select | NP_001230062.1:n.-122T>C | |
| NM_004895.5:c.-116T>C | NP_004886.3:n.-116T>C | |
| NM_183395.3:c.-122T>C | NP_899632.2:n.-122T>C |