Linked Data
dbSNP Id:
rs200331695
ExAC:
11:76174822 A / G
gnomAD v2:
11-76174822-A-G
gnomAD v3:
11-76463778-A-G
gnomAD v4:
11-76463778-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.76463778A>G , CM000673.2:g.76463778A>G | GRCh38 |
| NC_000011.9:g.76174822A>G , CM000673.1:g.76174822A>G | GRCh37 |
| NC_000011.8:g.75852470A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695367.1:c.617-43A>G MANE Select | ENSP00000511840.1:n.617-43A>G | |
| ENST00000334736.7:c.572-43A>G | ENSP00000334130.3:n.572-43A>G | |
| ENST00000427574.6:n.862-43A>G | ||
| ENST00000524490.5:c.575-43A>G | ENSP00000431166.1:n.575-43A>G | |
| ENST00000524767.5:c.617-43A>G | ENSP00000433205.1:n.617-43A>G | |
| ENST00000525038.5:c.617-43A>G | ENSP00000436968.1:n.617-43A>G | |
| ENST00000525919.5:c.575-43A>G | ENSP00000432010.1:n.575-43A>G | |
| ENST00000529032.5:c.572-43A>G | ENSP00000432327.1:n.572-43A>G | |
| ENST00000533248.5:c.614-43A>G | ENSP00000433634.1:n.614-43A>G | |
| ENST00000533972.5:c.70+16770A>G | ENSP00000434566.1:n.70+16770A>G | |
| NM_001300942.1:c.617-43A>G | NP_001287871.1:n.617-43A>G | |
| NM_001300943.1:c.575-43A>G | NP_001287872.1:n.575-43A>G | |
| NM_001300944.1:c.617-43A>G | NP_001287873.1:n.617-43A>G | |
| NM_020193.4:c.572-43A>G | NP_064578.2:n.572-43A>G | |
| XM_005274112.3:c.464-43A>G | XP_005274169.1:n.464-43A>G | |
| XM_006718637.2:c.617-43A>G | XP_006718700.1:n.617-43A>G | |
| XM_006718638.2:c.575-43A>G | XP_006718701.1:n.575-43A>G | |
| XM_006718639.2:c.422-43A>G | XP_006718702.1:n.422-43A>G | |
| XM_011545173.1:c.617-43A>G | XP_011543475.1:n.617-43A>G | |
| XM_011545174.1:c.614-43A>G | XP_011543476.1:n.614-43A>G | |
| XM_011545175.1:c.575-43A>G | XP_011543477.1:n.575-43A>G | |
| XM_011545176.1:c.617-43A>G | XP_011543478.1:n.617-43A>G | |
| XM_011545177.1:c.464-43A>G | XP_011543479.1:n.464-43A>G | |
| XM_011545178.1:c.617-43A>G | XP_011543480.1:n.617-43A>G | |
| XM_011545179.1:c.422-43A>G | XP_011543481.1:n.422-43A>G | |
| XM_011545180.1:c.617-43A>G | XP_011543482.1:n.617-43A>G | |
| XR_949996.1:n.857-43A>G | ||
| XR_949997.1:n.857-43A>G | ||
| XM_005274112.5:c.464-43A>G | XP_005274169.1:n.464-43A>G | |
| XM_006718637.4:c.617-43A>G | XP_006718700.1:n.617-43A>G | |
| XM_006718638.4:c.575-43A>G | XP_006718701.1:n.575-43A>G | |
| XM_006718639.4:c.422-43A>G | XP_006718702.1:n.422-43A>G | |
| XM_011545173.3:c.617-43A>G | XP_011543475.1:n.617-43A>G | |
| XM_011545174.3:c.614-43A>G | XP_011543476.1:n.614-43A>G | |
| XM_011545175.3:c.575-43A>G | XP_011543477.1:n.575-43A>G | |
| XM_011545177.3:c.464-43A>G | XP_011543479.1:n.464-43A>G | |
| XM_011545178.3:c.617-43A>G | XP_011543480.1:n.617-43A>G | |
| XM_011545179.3:c.422-43A>G | XP_011543481.1:n.422-43A>G | |
| XM_017018021.2:c.617-43A>G | XP_016873510.1:n.617-43A>G | |
| XM_017018022.2:c.-564-43A>G | XP_016873511.1:n.-564-43A>G | |
| XR_949996.3:n.857-43A>G | ||
| XR_949997.3:n.857-43A>G | ||
| NM_001300942.2:c.617-43A>G MANE Select | NP_001287871.1:n.617-43A>G | |
| NM_001300943.2:c.575-43A>G | NP_001287872.1:n.575-43A>G | |
| NM_001300944.2:c.617-43A>G | NP_001287873.1:n.617-43A>G | |
| NM_020193.5:c.572-43A>G | NP_064578.2:n.572-43A>G |