Linked Data
dbSNP Id:
rs17646665
gnomAD v2:
1-109912051-A-G
gnomAD v3:
1-109369429-A-G
gnomAD v4:
1-109369429-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109369429A>G , CM000663.2:g.109369429A>G | GRCh38 |
| NC_000001.10:g.109912051A>G , CM000663.1:g.109912051A>G | GRCh37 |
| NC_000001.9:g.109713574A>G | NCBI36 |
| NG_028280.1:g.33513T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256637.8:c.366+101T>C MANE Select | ENSP00000256637.6:n.366+101T>C | |
| ENST00000256637.7:c.366+101T>C | ENSP00000256637.6:n.366+101T>C | |
| ENST00000482236.5:c.-43+101T>C | ENSP00000487712.1:n.-43+101T>C | |
| ENST00000483508.5:n.60+101T>C | ||
| ENST00000493736.5:c.-43+101T>C | ENSP00000488262.1:n.-43+101T>C | |
| ENST00000495777.5:n.60+101T>C | ||
| ENST00000538502.5:c.-43+101T>C | ENSP00000438597.1:n.-43+101T>C | |
| ENST00000633956.1:c.-43+101T>C | ENSP00000488662.1:n.-43+101T>C | |
| NM_001205228.1:c.-43+101T>C | NP_001192157.1:n.-43+101T>C | |
| NM_002959.5:c.366+101T>C | NP_002950.3:n.366+101T>C | |
| NM_002959.6:c.366+101T>C | NP_002950.3:n.366+101T>C | |
| XM_005271100.2:c.366+101T>C | XP_005271157.1:n.366+101T>C | |
| XM_005271101.1:c.-43+101T>C | XP_005271158.1:n.-43+101T>C | |
| XM_005271102.1:c.-43+101T>C | XP_005271159.1:n.-43+101T>C | |
| XM_006710812.1:c.-43+101T>C | XP_006710875.1:n.-43+101T>C | |
| XM_005271101.3:c.-43+101T>C | XP_005271158.1:n.-43+101T>C | |
| XM_005271102.2:c.-43+101T>C | XP_005271159.1:n.-43+101T>C | |
| XM_006710812.2:c.-43+101T>C | XP_006710875.1:n.-43+101T>C | |
| NM_002959.7:c.366+101T>C MANE Select | NP_002950.3:n.366+101T>C | |
| NM_001205228.2:c.-43+101T>C | NP_001192157.1:n.-43+101T>C |