Linked Data
dbSNP Id:
rs1978331
gnomAD v2:
12-96409201-A-G
gnomAD v3:
12-96015423-A-G
gnomAD v4:
12-96015423-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.96015423A>G , CM000674.2:g.96015423A>G | GRCh38 |
| NC_000012.11:g.96409201A>G , CM000674.1:g.96409201A>G | GRCh37 |
| NC_000012.10:g.94933332A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228740.7:c.1059+160T>C MANE Select | ENSP00000228740.2:n.1059+160T>C | |
| ENST00000228740.6:c.1059+160T>C | ENSP00000228740.2:n.1059+160T>C | |
| ENST00000413268.6:c.987+160T>C | ENSP00000395051.2:n.987+160T>C | |
| ENST00000548852.5:c.*599+160T>C | ENSP00000449340.1:n.*599+160T>C | |
| ENST00000552789.5:c.987+160T>C | ENSP00000449958.1:n.987+160T>C | |
| ENST00000553041.5:n.1137+160T>C | ||
| NM_000895.2:c.1059+160T>C | NP_000886.1:n.1059+160T>C | |
| NM_001256643.1:c.987+160T>C | NP_001243572.1:n.987+160T>C | |
| NM_001256644.1:c.987+160T>C | NP_001243573.1:n.987+160T>C | |
| NR_132659.1:n.1140+160T>C | ||
| XM_005268871.1:c.1059+160T>C | XP_005268928.1:n.1059+160T>C | |
| XM_011538348.1:c.1059+160T>C | XP_011536650.1:n.1059+160T>C | |
| XM_011538349.1:c.1059+160T>C | XP_011536651.1:n.1059+160T>C | |
| XM_005268871.2:c.1059+160T>C | XP_005268928.1:n.1059+160T>C | |
| XM_011538349.3:c.1059+160T>C | XP_011536651.1:n.1059+160T>C | |
| XR_001748703.2:n.1160+160T>C | ||
| XR_002957326.1:n.1160+160T>C | ||
| NM_000895.3:c.1059+160T>C MANE Select | NP_000886.1:n.1059+160T>C | |
| NR_132659.2:n.1066+160T>C |