Linked Data
dbSNP Id:
rs10465746
gnomAD v2:
1-84387632-T-G
gnomAD v3:
1-83921949-T-G
gnomAD v4:
1-83921949-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.83921949T>G , CM000663.2:g.83921949T>G | GRCh38 |
| NC_000001.10:g.84387632T>G , CM000663.1:g.84387632T>G | GRCh37 |
| NC_000001.9:g.84160220T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260505.13:c.1143-555A>C MANE Select | ENSP00000260505.8:n.1143-555A>C | |
| ENST00000260505.12:c.1143-555A>C | ENSP00000260505.8:n.1143-555A>C | |
| ENST00000472688.5:n.1518-555A>C | ||
| ENST00000474957.5:c.198-555A>C | ENSP00000434146.1:n.198-555A>C | |
| ENST00000477524.5:n.1481-555A>C | ||
| ENST00000480174.5:c.1143-555A>C | ENSP00000435334.1:n.1143-555A>C | |
| ENST00000482783.1:n.191-555A>C | ||
| ENST00000485638.5:c.795-555A>C | ENSP00000432921.1:n.795-555A>C | |
| ENST00000488014.5:n.1279-555A>C | ||
| ENST00000610996.1:c.1143-555A>C | ENSP00000484660.1:n.1143-555A>C | |
| NM_024686.4:c.1143-555A>C | NP_078962.4:n.1143-555A>C | |
| XM_005271208.1:c.1062-555A>C | XP_005271265.1:n.1062-555A>C | |
| XM_005271211.2:c.408-555A>C | XP_005271268.1:n.408-555A>C | |
| XM_011542155.1:c.1143-555A>C | XP_011540457.1:n.1143-555A>C | |
| XM_011542156.1:c.876-555A>C | XP_011540458.1:n.876-555A>C | |
| XM_011542157.1:c.1143-555A>C | XP_011540459.1:n.1143-555A>C | |
| XM_011542158.1:c.1143-555A>C | XP_011540460.1:n.1143-555A>C | |
| XM_011542159.1:c.1143-555A>C | XP_011540461.1:n.1143-555A>C | |
| XR_946758.1:n.1435-555A>C | ||
| XR_946759.1:n.1435-555A>C | ||
| XR_946760.1:n.1435-555A>C | ||
| NM_001350214.1:c.1143-555A>C | NP_001337143.1:n.1143-555A>C | |
| NM_001350215.1:c.1062-555A>C | NP_001337144.1:n.1062-555A>C | |
| NM_024686.5:c.1143-555A>C | NP_078962.4:n.1143-555A>C | |
| XM_011542159.3:c.1143-555A>C | XP_011540461.1:n.1143-555A>C | |
| XM_017002349.2:c.408-555A>C | XP_016857838.1:n.408-555A>C | |
| XM_024449807.1:c.408-555A>C | XP_024305575.1:n.408-555A>C | |
| XR_001737409.2:n.1435-555A>C | ||
| XR_001737410.2:n.1435-555A>C | ||
| XR_001737411.2:n.1435-555A>C | ||
| XR_001737412.2:n.1435-555A>C | ||
| XR_001737413.2:n.1435-555A>C | ||
| XR_001737414.2:n.1435-555A>C | ||
| XR_001737415.2:n.1435-555A>C | ||
| XR_946758.3:n.1435-555A>C | ||
| XR_946760.3:n.1435-555A>C | ||
| NM_024686.6:c.1143-555A>C MANE Select | NP_078962.4:n.1143-555A>C | |
| NM_001350214.2:c.1143-555A>C | NP_001337143.1:n.1143-555A>C | |
| NM_001350215.2:c.1062-555A>C | NP_001337144.1:n.1062-555A>C |