Linked Data
dbSNP Id:
rs1230632342
gnomAD v2:
1-213056682-G-T
gnomAD v3:
1-212883340-G-T
gnomAD v4:
1-212883340-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212883340G>T , CM000663.2:g.212883340G>T | GRCh38 |
| NC_000001.10:g.213056682G>T , CM000663.1:g.213056682G>T | GRCh37 |
| NC_000001.9:g.211123305G>T | NCBI36 |
| NG_028131.1:g.30086G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.1025-31G>T MANE Select | ENSP00000355938.4:n.1025-31G>T | |
| ENST00000366971.8:c.1025-31G>T | ENSP00000355938.4:n.1025-31G>T | |
| ENST00000419102.1:c.421-31G>T | ||
| ENST00000474693.1:n.250-31G>T | ||
| NM_014053.3:c.1025-31G>T | NP_054772.1:n.1025-31G>T | |
| XM_011509446.1:c.1025-31G>T | XP_011507748.1:n.1025-31G>T | |
| XR_247024.1:n.1199-31G>T | ||
| XR_426771.1:n.1326-31G>T | ||
| XM_011509446.3:c.1025-31G>T | XP_011507748.1:n.1025-31G>T | |
| XR_247024.3:n.1199-31G>T | ||
| NM_014053.4:c.1025-31G>T MANE Select | NP_054772.1:n.1025-31G>T |