Linked Data
dbSNP Id:
rs10789859
gnomAD v2:
11-111960533-T-C
gnomAD v3:
11-112089809-T-C
gnomAD v4:
11-112089809-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112089809T>C , CM000673.2:g.112089809T>C | GRCh38 |
| NC_000011.9:g.111960533T>C , CM000673.1:g.111960533T>C | GRCh37 |
| NC_000011.8:g.111465743T>C | NCBI36 |
| NG_012337.2:g.7963T>C | |
| NG_033145.1:g.1990A>G | |
| NG_012337.3:g.7963T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.314+798T>C | ENSP00000432946.2:n.314+798T>C | |
| ENST00000534010.2:c.314+798T>C | ENSP00000433202.2:n.314+798T>C | |
| ENST00000375549.8:c.314+798T>C MANE Select | ENSP00000364699.3:n.314+798T>C | |
| ENST00000528021.6:c.314+798T>C | ENSP00000432465.1:n.314+798T>C | |
| ENST00000375549.7:c.314+798T>C | ENSP00000364699.3:n.314+798T>C | |
| ENST00000525291.5:c.197+798T>C | ENSP00000436669.1:n.197+798T>C | |
| ENST00000525987.5:n.319+798T>C | ||
| ENST00000526592.5:c.314+798T>C | ENSP00000432005.1:n.314+798T>C | |
| ENST00000528021.5:c.314+798T>C | ENSP00000432465.1:n.314+798T>C | |
| ENST00000528048.5:c.169+1836T>C | ENSP00000436217.1:n.169+1836T>C | |
| ENST00000528182.5:c.307+805T>C | ENSP00000435475.1:n.307+805T>C | |
| ENST00000530923.5:c.304+798T>C | ||
| ENST00000531744.5:c.314+798T>C | ENSP00000456957.1:n.314+798T>C | |
| ENST00000532699.1:c.314+798T>C | ENSP00000456434.1:n.314+798T>C | |
| ENST00000534010.1:c.145+798T>C | ||
| ENST00000614349.4:c.314+798T>C | ENSP00000480666.1:n.314+798T>C | |
| NM_001276503.1:c.169+1836T>C | NP_001263432.1:n.169+1836T>C | |
| NM_001276504.1:c.197+798T>C | NP_001263433.1:n.197+798T>C | |
| NM_001276506.1:c.314+798T>C | NP_001263435.1:n.314+798T>C | |
| NM_003002.3:c.314+798T>C | NP_002993.1:n.314+798T>C | |
| NR_077060.1:n.398+798T>C | ||
| NM_003002.4:c.314+798T>C MANE Select | NP_002993.1:n.314+798T>C | |
| NM_001276503.2:c.169+1836T>C | NP_001263432.1:n.169+1836T>C | |
| NM_001276504.2:c.197+798T>C | NP_001263433.1:n.197+798T>C | |
| NM_001276506.2:c.314+798T>C | NP_001263435.1:n.314+798T>C | |
| NR_077060.2:n.349+798T>C |