Linked Data
dbSNP Id:
rs10198552
gnomAD v2:
2-135599876-T-C
gnomAD v3:
2-134842306-T-C
gnomAD v4:
2-134842306-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.134842306T>C , CM000664.2:g.134842306T>C | GRCh38 |
| NC_000002.11:g.135599876T>C , CM000664.1:g.135599876T>C | GRCh37 |
| NC_000002.10:g.135316346T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356140.10:c.58-2927T>C MANE Select | ENSP00000348459.5:n.58-2927T>C | |
| ENST00000356140.9:c.58-2927T>C | ENSP00000348459.5:n.58-2927T>C | |
| ENST00000392928.5:c.-174-2059T>C | ENSP00000376659.1:n.-174-2059T>C | |
| ENST00000485893.5:n.125-2927T>C | ||
| NM_001307983.1:c.-174-2059T>C | NP_001294912.1:n.-174-2059T>C | |
| NM_138326.2:c.58-2927T>C | NP_612199.2:n.58-2927T>C | |
| XM_005263586.3:c.58-2927T>C | XP_005263643.1:n.58-2927T>C | |
| XM_005263588.3:c.-67-2927T>C | XP_005263645.1:n.-67-2927T>C | |
| XM_005263589.3:c.-242-2053T>C | XP_005263646.1:n.-242-2053T>C | |
| XM_011510592.1:c.-180-2053T>C | XP_011508894.1:n.-180-2053T>C | |
| XM_005263586.4:c.58-2927T>C | XP_005263643.1:n.58-2927T>C | |
| XM_005263588.4:c.-67-2927T>C | XP_005263645.1:n.-67-2927T>C | |
| XM_005263589.4:c.-242-2053T>C | XP_005263646.1:n.-242-2053T>C | |
| XM_011510592.2:c.-180-2053T>C | XP_011508894.1:n.-180-2053T>C | |
| XM_017003325.1:c.-177-2056T>C | XP_016858814.1:n.-177-2056T>C | |
| XM_017003326.1:c.-1228T>C | XP_016858815.1:n.-1228T>C | |
| XM_024452690.1:c.-239-2056T>C | XP_024308458.1:n.-239-2056T>C | |
| XM_024452691.1:c.-236-2059T>C | XP_024308459.1:n.-236-2059T>C | |
| NM_138326.3:c.58-2927T>C MANE Select | NP_612199.2:n.58-2927T>C | |
| NM_001307983.2:c.-174-2059T>C | NP_001294912.1:n.-174-2059T>C |