Linked Data
dbSNP Id:
rs2396545
gnomAD v2:
11-601785-T-C
gnomAD v3:
11-601785-T-C
gnomAD v4:
11-601785-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.601785T>C , CM000673.2:g.601785T>C | GRCh38 |
| NC_000011.9:g.601785T>C , CM000673.1:g.601785T>C | GRCh37 |
| NC_000011.8:g.591785T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264555.10:c.1152+84T>C MANE Select | ENSP00000264555.5:n.1152+84T>C | |
| ENST00000416188.3:c.1152+84T>C | ENSP00000410626.2:n.1152+84T>C | |
| ENST00000264555.9:c.1152+84T>C | ENSP00000264555.5:n.1152+84T>C | |
| ENST00000413872.6:c.1149+84T>C | ENSP00000388589.2:n.1149+84T>C | |
| ENST00000416188.2:c.1152+84T>C | ENSP00000410626.2:n.1152+84T>C | |
| ENST00000532550.1:n.45+84T>C | ||
| ENST00000533464.5:c.1140+84T>C | ENSP00000431870.1:n.1140+84T>C | |
| ENST00000534320.5:c.1152+84T>C | ENSP00000435360.1:n.1152+84T>C | |
| NM_001286581.1:c.1152+84T>C | NP_001273510.1:n.1152+84T>C | |
| NM_001286582.1:c.1149+84T>C | NP_001273511.1:n.1149+84T>C | |
| NM_001286583.1:c.1140+84T>C | NP_001273512.1:n.1140+84T>C | |
| NM_020901.3:c.1152+84T>C | NP_065952.2:n.1152+84T>C | |
| XM_005253025.3:c.1149+84T>C | XP_005253082.1:n.1149+84T>C | |
| XM_005253027.2:c.1143+84T>C | XP_005253084.1:n.1143+84T>C | |
| XM_011520236.1:c.1146+90T>C | XP_011518538.1:n.1146+90T>C | |
| XM_011520237.1:c.1032+84T>C | XP_011518539.1:n.1032+84T>C | |
| XM_005253025.5:c.1149+84T>C | XP_005253082.1:n.1149+84T>C | |
| XM_005253027.3:c.1143+84T>C | XP_005253084.1:n.1143+84T>C | |
| XM_011520236.3:c.1146+90T>C | XP_011518538.1:n.1146+90T>C | |
| XM_011520237.3:c.1032+84T>C | XP_011518539.1:n.1032+84T>C | |
| NM_001286581.2:c.1152+84T>C MANE Select | NP_001273510.1:n.1152+84T>C | |
| NM_001286582.2:c.1149+84T>C | NP_001273511.1:n.1149+84T>C | |
| NM_001286583.2:c.1140+84T>C | NP_001273512.1:n.1140+84T>C | |
| NM_020901.4:c.1152+84T>C | NP_065952.2:n.1152+84T>C |