Linked Data
dbSNP Id:
rs2582532
gnomAD v2:
14-105392837-T-C
gnomAD v3:
14-104926500-T-C
gnomAD v4:
14-104926500-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104926500T>C , CM000676.2:g.104926500T>C | GRCh38 |
| NC_000014.8:g.105392837T>C , CM000676.1:g.105392837T>C | GRCh37 |
| NC_000014.7:g.104463882T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392593.9:c.1-641T>C MANE Select | ENSP00000376372.5:n.1-641T>C | |
| ENST00000649344.1:c.1-641T>C | ENSP00000497627.1:n.1-641T>C | |
| ENST00000392593.8:c.1-641T>C | ENSP00000376372.4:n.1-641T>C | |
| ENST00000472901.1:n.112-641T>C | ||
| ENST00000540372.5:c.-17-603T>C | ENSP00000438677.1:n.-17-603T>C | |
| ENST00000557573.1:c.1-641T>C | ENSP00000451278.1:n.1-641T>C | |
| NM_001308174.1:c.-17-603T>C | NP_001295103.1:n.-17-603T>C | |
| NM_138790.2:c.1-641T>C | NP_620145.2:n.1-641T>C | |
| NM_138790.3:c.1-641T>C | NP_620145.2:n.1-641T>C | |
| XM_011536411.1:c.-17-603T>C | XP_011534713.1:n.-17-603T>C | |
| XM_011536411.2:c.-17-603T>C | XP_011534713.1:n.-17-603T>C | |
| XM_017020965.1:c.1-641T>C | XP_016876454.1:n.1-641T>C | |
| XM_024449469.1:c.-17-603T>C | XP_024305237.1:n.-17-603T>C | |
| XM_024449470.1:c.1-641T>C | XP_024305238.1:n.1-641T>C | |
| NM_001308174.2:c.-17-603T>C | NP_001295103.1:n.-17-603T>C | |
| NM_138790.5:c.1-641T>C MANE Select | NP_620145.2:n.1-641T>C |