Linked Data
dbSNP Id:
rs4665972
gnomAD v2:
2-27598097-T-C
gnomAD v3:
2-27375230-T-C
gnomAD v4:
2-27375230-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375230T>C , CM000664.2:g.27375230T>C | GRCh38 |
| NC_000002.11:g.27598097T>C , CM000664.1:g.27598097T>C | GRCh37 |
| NC_000002.10:g.27451601T>C | NCBI36 |
| NG_009305.1:g.228A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233575.7:c.774+77T>C MANE Select | ENSP00000233575.2:n.774+77T>C | |
| ENST00000233575.6:c.774+77T>C | ENSP00000233575.2:n.774+77T>C | |
| ENST00000427123.5:c.*584+77T>C | ENSP00000405399.1:n.*584+77T>C | |
| ENST00000440760.5:c.*619+77T>C | ENSP00000399727.1:n.*619+77T>C | |
| ENST00000453453.1:c.*301+77T>C | ENSP00000401922.1:n.*301+77T>C | |
| ENST00000493711.1:n.491+77T>C | ||
| ENST00000494893.5:n.950+77T>C | ||
| ENST00000537606.5:c.699+77T>C | ENSP00000439208.1:n.699+77T>C | |
| NM_001267059.1:c.738+77T>C | NP_001253988.1:n.738+77T>C | |
| NM_001267060.1:c.699+77T>C | NP_001253989.1:n.699+77T>C | |
| NM_001267061.1:c.714+77T>C | NP_001253990.1:n.714+77T>C | |
| NM_014748.3:c.774+77T>C | NP_055563.1:n.774+77T>C | |
| NR_049782.1:n.1147+77T>C | ||
| NR_049783.1:n.1120+77T>C | ||
| NR_049784.1:n.1096+77T>C | ||
| NR_049785.1:n.1029+77T>C | ||
| NR_049786.1:n.978+77T>C | ||
| NR_049787.1:n.829+77T>C | ||
| NR_049788.1:n.759+77T>C | ||
| XM_011533203.1:c.132+77T>C | XP_011531505.1:n.132+77T>C | |
| XM_011533203.2:c.132+77T>C | XP_011531505.1:n.132+77T>C | |
| XM_017005405.2:c.132+77T>C | XP_016860894.1:n.132+77T>C | |
| NM_014748.4:c.774+77T>C MANE Select | NP_055563.1:n.774+77T>C | |
| NM_001267059.2:c.738+77T>C | NP_001253988.1:n.738+77T>C | |
| NM_001267061.2:c.714+77T>C | NP_001253990.1:n.714+77T>C | |
| NR_049782.2:n.1027+77T>C | ||
| NR_049783.2:n.1000+77T>C | ||
| NR_049784.2:n.976+77T>C | ||
| NR_049785.2:n.909+77T>C | ||
| NR_049786.2:n.858+77T>C | ||
| NR_049787.2:n.709+77T>C | ||
| NR_049788.2:n.639+77T>C | ||
| NM_001267060.2:c.699+77T>C | NP_001253989.1:n.699+77T>C |