Linked Data
dbSNP Id:
rs13306561
gnomAD v2:
1-11865804-A-G
gnomAD v3:
1-11805747-A-G
gnomAD v4:
1-11805747-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11805747A>G , CM000663.2:g.11805747A>G | GRCh38 |
| NC_000001.10:g.11865804A>G , CM000663.1:g.11865804A>G | GRCh37 |
| NC_000001.9:g.11788391A>G | NCBI36 |
| NG_008766.1:g.4598A>G | |
| NG_013351.1:g.5357T>C , LRG_726:g.5357T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376486.3:c.-11+141T>C | ENSP00000365669.3:n.-11+141T>C | |
| ENST00000376590.9:c.-14+141T>C MANE Select | ENSP00000365775.3:n.-14+141T>C | |
| ENST00000641437.1:n.119+141T>C | ||
| ENST00000641446.1:c.-14+141T>C | ENSP00000493262.1:n.-14+141T>C | |
| ENST00000641747.1:c.-14+141T>C | ENSP00000493116.1:n.-14+141T>C | |
| ENST00000642002.1:n.216+141T>C | ||
| ENST00000376486.2:c.-14+141T>C | ENSP00000365669.2:n.-14+141T>C | |
| ENST00000376590.7:c.-14+141T>C | ENSP00000365775.3:n.-14+141T>C | |
| ENST00000418034.1:c.-414T>C | ENSP00000405082.1:n.-414T>C | |
| NM_005957.4:c.-14+141T>C , LRG_726t1:c.-14+141T>C | NP_005948.3:n.-14+141T>C | |
| XM_005263460.3:c.-414T>C | XP_005263517.1:n.-414T>C | |
| XM_005263461.3:c.-411T>C | XP_005263518.1:n.-411T>C | |
| XM_005263462.3:c.-11+141T>C | XP_005263519.1:n.-11+141T>C | |
| XM_005263463.2:c.-277+141T>C | XP_005263520.1:n.-277+141T>C | |
| XM_005263460.5:c.-414T>C | XP_005263517.1:n.-414T>C | |
| XM_005263462.4:c.-11+141T>C | XP_005263519.1:n.-11+141T>C | |
| XM_005263463.4:c.-277+141T>C | XP_005263520.1:n.-277+141T>C | |
| NM_005957.5:c.-14+141T>C MANE Select | NP_005948.3:n.-14+141T>C |