Linked Data
dbSNP Id:
rs1160180259
gnomAD v2:
17-61564435-G-T
gnomAD v3:
17-63487074-G-T
gnomAD v4:
17-63487074-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487074G>T , CM000679.2:g.63487074G>T | GRCh38 |
| NC_000017.10:g.61564435G>T , CM000679.1:g.61564435G>T | GRCh37 |
| NC_000017.9:g.58918167G>T | NCBI36 |
| NG_011648.1:g.15002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2305+1G>T MANE Select | ENSP00000290866.4:n.2305+1G>T | |
| ENST00000290863.10:c.583+1G>T | ENSP00000290863.6:n.583+1G>T | |
| ENST00000290866.9:c.2305+1G>T | ENSP00000290866.4:n.2305+1G>T | |
| ENST00000413513.7:c.583+1G>T | ENSP00000392247.3:n.583+1G>T | |
| ENST00000428043.5:c.2305+1G>T | ENSP00000397593.2:n.2305+1G>T | |
| ENST00000577647.2:c.583+1G>T | ENSP00000464149.1:n.583+1G>T | |
| ENST00000578839.5:c.*375+1G>T | ENSP00000462110.2:n.*375+1G>T | |
| ENST00000579204.1:c.486+1G>T | ENSP00000464629.1:n.486+1G>T | |
| ENST00000579314.5:c.583+1G>T | ENSP00000462599.1:n.583+1G>T | |
| ENST00000582005.5:c.*225+1G>T | ENSP00000462002.1:n.*225+1G>T | |
| ENST00000582761.1:c.73+1G>T | ENSP00000462909.1:n.73+1G>T | |
| ENST00000584865.5:n.251+1G>T | ||
| NM_000789.3:c.2305+1G>T | NP_000780.1:n.2305+1G>T | |
| NM_001178057.1:c.583+1G>T | NP_001171528.1:n.583+1G>T | |
| NM_152830.2:c.583+1G>T | NP_690043.1:n.583+1G>T | |
| XM_005257110.1:c.1756+1G>T | XP_005257167.1:n.1756+1G>T | |
| XM_006721737.2:c.643+1G>T | XP_006721800.2:n.643+1G>T | |
| XM_006721737.3:c.643+1G>T | XP_006721800.2:n.643+1G>T | |
| NM_000789.4:c.2305+1G>T MANE Select | NP_000780.1:n.2305+1G>T | |
| NM_001178057.2:c.583+1G>T | NP_001171528.1:n.583+1G>T | |
| NM_152830.3:c.583+1G>T | NP_690043.1:n.583+1G>T | |
| NM_001382700.1:c.1738+1G>T | NP_001369629.1:n.1738+1G>T | |
| NM_001382701.1:c.1453+1G>T | NP_001369630.1:n.1453+1G>T | |
| NM_001382702.1:c.235+1G>T | NP_001369631.1:n.235+1G>T | |
| NR_168483.1:n.605+1G>T |