Linked Data
dbSNP Id:
rs148510647
gnomAD v2:
2-27598260-C-T
gnomAD v3:
2-27375393-C-T
gnomAD v4:
2-27375393-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375393C>T , CM000664.2:g.27375393C>T | GRCh38 |
| NC_000002.11:g.27598260C>T , CM000664.1:g.27598260C>T | GRCh37 |
| NC_000002.10:g.27451764C>T | NCBI36 |
| NG_009305.1:g.65G>A | |
| NG_028219.1:g.10352G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.775-113C>T MANE Select | ENSP00000233575.2:n.775-113C>T | |
| ENST00000233575.6:c.775-113C>T | ENSP00000233575.2:n.775-113C>T | |
| ENST00000427123.5:c.*585-113C>T | ENSP00000405399.1:n.*585-113C>T | |
| ENST00000440760.5:c.*620-113C>T | ENSP00000399727.1:n.*620-113C>T | |
| ENST00000453453.1:c.*302-113C>T | ENSP00000401922.1:n.*302-113C>T | |
| ENST00000493711.1:n.492-113C>T | ||
| ENST00000494893.5:n.951-113C>T | ||
| ENST00000537606.5:c.700-113C>T | ENSP00000439208.1:n.700-113C>T | |
| NM_001267059.1:c.739-113C>T | NP_001253988.1:n.739-113C>T | |
| NM_001267060.1:c.700-113C>T | NP_001253989.1:n.700-113C>T | |
| NM_001267061.1:c.715-113C>T | NP_001253990.1:n.715-113C>T | |
| NM_014748.3:c.775-113C>T | NP_055563.1:n.775-113C>T | |
| NR_049782.1:n.1148-113C>T | ||
| NR_049783.1:n.1121-113C>T | ||
| NR_049784.1:n.1097-113C>T | ||
| NR_049785.1:n.1030-113C>T | ||
| NR_049786.1:n.979-113C>T | ||
| NR_049787.1:n.830-113C>T | ||
| NR_049788.1:n.760-113C>T | ||
| XM_011533203.1:c.133-113C>T | XP_011531505.1:n.133-113C>T | |
| XM_011533203.2:c.133-113C>T | XP_011531505.1:n.133-113C>T | |
| XM_017005405.2:c.133-113C>T | XP_016860894.1:n.133-113C>T | |
| NM_014748.4:c.775-113C>T MANE Select | NP_055563.1:n.775-113C>T | |
| NM_001267059.2:c.739-113C>T | NP_001253988.1:n.739-113C>T | |
| NM_001267061.2:c.715-113C>T | NP_001253990.1:n.715-113C>T | |
| NR_049782.2:n.1028-113C>T | ||
| NR_049783.2:n.1001-113C>T | ||
| NR_049784.2:n.977-113C>T | ||
| NR_049785.2:n.910-113C>T | ||
| NR_049786.2:n.859-113C>T | ||
| NR_049787.2:n.710-113C>T | ||
| NR_049788.2:n.640-113C>T | ||
| NM_001267060.2:c.700-113C>T | NP_001253989.1:n.700-113C>T |