Linked Data
dbSNP Id:
rs10500279
gnomAD v2:
19-39035068-G-C
gnomAD v3:
19-38544428-G-C
gnomAD v4:
19-38544428-G-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38544428G>C , CM000681.2:g.38544428G>C | GRCh38 |
| NC_000019.9:g.39035068G>C , CM000681.1:g.39035068G>C | GRCh37 |
| NC_000019.8:g.43726908G>C | NCBI36 |
| NG_008866.1:g.115729G>C , LRG_766:g.115729G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000688602.1:c.422+553G>C | ||
| ENST00000689936.1:c.404+553G>C | ||
| ENST00000359596.8:c.12012+553G>C MANE Select | ENSP00000352608.2:n.12012+553G>C | |
| ENST00000355481.8:c.11997+553G>C | ENSP00000347667.3:n.11997+553G>C | |
| ENST00000359596.7:c.12012+553G>C | ENSP00000352608.2:n.12012+553G>C | |
| ENST00000360985.7:c.11994+553G>C | ENSP00000354254.4:n.11994+553G>C | |
| ENST00000593322.1:c.621+553G>C | ||
| ENST00000594335.5:c.5381+553G>C | ||
| NM_000540.2:c.12012+553G>C , LRG_766t1:c.12012+553G>C | NP_000531.2:n.12012+553G>C | |
| NM_001042723.1:c.11997+553G>C | NP_001036188.1:n.11997+553G>C | |
| XM_006723317.1:c.11994+553G>C | XP_006723380.1:n.11994+553G>C | |
| XM_006723319.1:c.11979+553G>C | XP_006723382.1:n.11979+553G>C | |
| XM_011527204.1:c.12009+553G>C | XP_011525506.1:n.12009+553G>C | |
| XM_011527205.1:c.12012+553G>C | XP_011525507.1:n.12012+553G>C | |
| XM_006723317.2:c.11994+553G>C | XP_006723380.1:n.11994+553G>C | |
| XM_006723319.2:c.11979+553G>C | XP_006723382.1:n.11979+553G>C | |
| XM_011527205.2:c.12012+553G>C | XP_011525507.1:n.12012+553G>C | |
| NM_000540.3:c.12012+553G>C MANE Select | NP_000531.2:n.12012+553G>C | |
| NM_001042723.2:c.11997+553G>C | NP_001036188.1:n.11997+553G>C |