Linked Data
dbSNP Id:
rs10512766
gnomAD v2:
5-41213335-C-G
gnomAD v3:
5-41213233-C-G
gnomAD v4:
5-41213233-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41213233C>G , CM000667.2:g.41213233C>G | GRCh38 |
| NC_000005.9:g.41213335C>G , CM000667.1:g.41213335C>G | GRCh37 |
| NC_000005.8:g.41249092C>G | NCBI36 |
| NG_011582.1:g.53206G>C , LRG_29:g.53206G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433294.2:c.-178+143G>C | ENSP00000401578.2:n.-178+143G>C | |
| ENST00000706655.1:n.253+143G>C | ||
| ENST00000706656.1:n.157+143G>C | ||
| ENST00000337836.10:c.-21+143G>C MANE Select | ENSP00000338861.5:n.-21+143G>C | |
| ENST00000263413.7:c.-20-9983G>C | ENSP00000263413.3:n.-20-9983G>C | |
| ENST00000337836.9:c.-21+143G>C | ENSP00000338861.5:n.-21+143G>C | |
| ENST00000433294.1:c.-178+143G>C | ENSP00000401578.1:n.-178+143G>C | |
| NM_000065.3:c.-21+143G>C | NP_000056.2:n.-21+143G>C | |
| NM_001115131.2:c.-20-9983G>C | NP_001108603.2:n.-20-9983G>C | |
| XM_005248357.1:c.8-9983G>C | XP_005248414.1:n.8-9983G>C | |
| XM_006714496.2:c.8-9983G>C | XP_006714559.1:n.8-9983G>C | |
| XM_011514114.1:c.8-9983G>C | XP_011512416.1:n.8-9983G>C | |
| XM_011514115.1:c.-21+143G>C | XP_011512417.1:n.-21+143G>C | |
| XM_011514116.1:c.-159+143G>C | XP_011512418.1:n.-159+143G>C | |
| XM_011514117.1:c.-178+143G>C | XP_011512419.1:n.-178+143G>C | |
| XM_011514119.1:c.8-9983G>C | XP_011512421.1:n.8-9983G>C | |
| XM_011514120.1:c.8-9983G>C | XP_011512422.1:n.8-9983G>C | |
| XM_005248357.3:c.8-9983G>C | XP_005248414.1:n.8-9983G>C | |
| XM_006714496.4:c.8-9983G>C | XP_006714559.1:n.8-9983G>C | |
| XM_011514114.3:c.8-9983G>C | XP_011512416.1:n.8-9983G>C | |
| XM_011514115.3:c.-21+143G>C | XP_011512417.1:n.-21+143G>C | |
| XM_011514116.3:c.-159+143G>C | XP_011512418.1:n.-159+143G>C | |
| XM_011514117.3:c.-178+143G>C | XP_011512419.1:n.-178+143G>C | |
| XM_011514119.3:c.8-9983G>C | XP_011512421.1:n.8-9983G>C | |
| XM_017009818.2:c.-182+143G>C | XP_016865307.1:n.-182+143G>C | |
| NM_000065.4:c.-21+143G>C | NP_000056.2:n.-21+143G>C | |
| NM_001115131.3:c.-20-9983G>C | NP_001108603.2:n.-20-9983G>C | |
| NM_000065.5:c.-21+143G>C MANE Select | NP_000056.2:n.-21+143G>C | |
| NM_001115131.4:c.-20-9983G>C | NP_001108603.2:n.-20-9983G>C |