Linked Data
dbSNP Id:
rs1170472988
gnomAD v2:
17-61909272-C-G
gnomAD v3:
17-63831912-C-G
gnomAD v4:
17-63831912-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63831912C>G , CM000679.2:g.63831912C>G | GRCh38 |
| NC_000017.10:g.61909272C>G , CM000679.1:g.61909272C>G | GRCh37 |
| NC_000017.9:g.59263004C>G | NCBI36 |
| NG_053004.1:g.16080G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584880.6:c.*365-4C>G | ENSP00000464347.2:n.*365-4C>G | |
| ENST00000703608.1:c.*685-4C>G | ENSP00000515392.1:n.*685-4C>G | |
| ENST00000703609.1:c.1087-4C>G | ENSP00000515393.1:n.1087-4C>G | |
| ENST00000703610.1:c.*445-4C>G | ENSP00000515394.1:n.*445-4C>G | |
| ENST00000310144.11:c.1168-4C>G MANE Select | ENSP00000310572.6:n.1168-4C>G | |
| ENST00000310144.10:c.1168-4C>G | ENSP00000310572.6:n.1168-4C>G | |
| ENST00000375812.8:c.1144-4C>G | ENSP00000364970.4:n.1144-4C>G | |
| ENST00000578570.5:n.1578-4C>G | ||
| ENST00000579147.5:n.2483-4C>G | ||
| ENST00000580864.5:c.1144-4C>G | ENSP00000462495.1:n.1144-4C>G | |
| ENST00000581882.5:c.1144-4C>G | ENSP00000463938.1:n.1144-4C>G | |
| ENST00000584657.1:n.473-4C>G | ||
| ENST00000585242.5:c.*939-4C>G | ENSP00000463107.1:n.*939-4C>G | |
| NM_001199163.1:c.1144-4C>G | NP_001186092.1:n.1144-4C>G | |
| NM_002805.5:c.1168-4C>G | NP_002796.4:n.1168-4C>G | |
| XM_006721980.1:c.1168-4C>G | XP_006722043.1:n.1168-4C>G | |
| XR_934508.1:n.1257-4C>G | ||
| XM_024450840.1:c.1249-4C>G | XP_024306608.1:n.1249-4C>G | |
| XM_024450841.1:c.1225-4C>G | XP_024306609.1:n.1225-4C>G | |
| XR_934508.2:n.1244-4C>G | ||
| NM_002805.6:c.1168-4C>G MANE Select | NP_002796.4:n.1168-4C>G | |
| NM_001199163.2:c.1144-4C>G | NP_001186092.1:n.1144-4C>G |