Linked Data
dbSNP Id:
rs6943090
gnomAD v2:
7-72746648-C-T
gnomAD v3:
7-73332645-C-T
gnomAD v4:
7-73332645-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73332645C>T , CM000669.2:g.73332645C>T | GRCh38 |
| NC_000007.13:g.72746648C>T , CM000669.1:g.72746648C>T | GRCh37 |
| NC_000007.12:g.72384584C>T | NCBI36 |
| NG_023242.2:g.9490C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252037.5:c.588+869C>T MANE Select | ENSP00000252037.4:n.588+869C>T | |
| ENST00000648538.1:c.573+869C>T | ENSP00000497448.1:n.573+869C>T | |
| ENST00000252037.4:c.588+869C>T | ENSP00000252037.4:n.588+869C>T | |
| ENST00000413573.6:c.498+869C>T | ENSP00000394952.2:n.498+869C>T | |
| ENST00000429879.5:c.573+884C>T | ENSP00000403908.1:n.573+884C>T | |
| ENST00000431982.6:c.573+869C>T | ENSP00000416277.2:n.573+869C>T | |
| ENST00000442793.5:c.453+2293C>T | ENSP00000402360.1:n.453+2293C>T | |
| ENST00000445032.5:c.*667+869C>T | ENSP00000415891.1:n.*667+869C>T | |
| NM_001135211.2:c.573+869C>T | NP_001128683.1:n.573+869C>T | |
| NM_001281304.1:c.498+869C>T | NP_001268233.1:n.498+869C>T | |
| NM_003602.4:c.588+869C>T | NP_003593.3:n.588+869C>T | |
| XM_005250643.3:c.468+2293C>T | XP_005250700.1:n.468+2293C>T | |
| XM_006716152.2:c.573+884C>T | XP_006716215.1:n.573+884C>T | |
| XM_006716153.1:c.453+2293C>T | XP_006716216.1:n.453+2293C>T | |
| XM_011516644.1:c.588+869C>T | XP_011514946.1:n.588+869C>T | |
| NM_001362789.1:c.453+2293C>T | NP_001349718.1:n.453+2293C>T | |
| XM_017012741.1:c.558+884C>T | XP_016868230.1:n.558+884C>T | |
| XM_017012742.1:c.573+869C>T | XP_016868231.1:n.573+869C>T | |
| NM_003602.5:c.588+869C>T MANE Select | NP_003593.3:n.588+869C>T | |
| NM_001135211.3:c.573+869C>T | NP_001128683.1:n.573+869C>T | |
| NM_001281304.2:c.498+869C>T | NP_001268233.1:n.498+869C>T | |
| NM_001362789.2:c.453+2293C>T | NP_001349718.1:n.453+2293C>T |