Linked Data
dbSNP Id:
rs2727280
gnomAD v2:
17-61918082-A-G
gnomAD v3:
17-63840722-A-G
gnomAD v4:
17-63840722-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63840722A>G , CM000679.2:g.63840722A>G | GRCh38 |
| NC_000017.10:g.61918082A>G , CM000679.1:g.61918082A>G | GRCh37 |
| NC_000017.9:g.59271814A>G | NCBI36 |
| NG_053004.1:g.7270T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697953.1:n.104+1737T>C | ||
| ENST00000698022.1:c.33+1737T>C | ENSP00000513504.1:n.33+1737T>C | |
| ENST00000448276.7:c.216+1737T>C MANE Select | ENSP00000392617.2:n.216+1737T>C | |
| ENST00000225742.13:c.-10+1659T>C | ENSP00000225742.9:n.-10+1659T>C | |
| ENST00000448276.6:c.216+1737T>C | ENSP00000392617.2:n.216+1737T>C | |
| ENST00000577686.1:n.52+1737T>C | ||
| ENST00000584400.5:c.216+1737T>C | ENSP00000464503.1:n.216+1737T>C | |
| ENST00000613943.4:c.105+1737T>C | ENSP00000483605.1:n.105+1737T>C | |
| NM_001098426.1:c.216+1737T>C | NP_001091896.1:n.216+1737T>C | |
| XM_005257604.2:c.-10+1659T>C | XP_005257661.2:n.-10+1659T>C | |
| NM_001330439.1:c.-10+1659T>C | NP_001317368.1:n.-10+1659T>C | |
| NM_001098426.2:c.216+1737T>C MANE Select | NP_001091896.1:n.216+1737T>C |