Linked Data
dbSNP Id:
rs3791556
gnomAD v2:
2-240112972-G-A
gnomAD v3:
2-239191276-G-A
gnomAD v4:
2-239191276-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.239191276G>A , CM000664.2:g.239191276G>A | GRCh38 |
| NC_000002.11:g.240112972G>A , CM000664.1:g.240112972G>A | GRCh37 |
| NC_000002.10:g.239777909G>A | NCBI36 |
| NG_009235.1:g.214672C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000685474.1:n.581-1199C>T | ||
| ENST00000543185.6:c.95-1199C>T MANE Select | ENSP00000440481.3:n.95-1199C>T | |
| ENST00000345617.7:c.95-1199C>T | ENSP00000264606.3:n.95-1199C>T | |
| ENST00000446876.1:c.14-1199C>T | ENSP00000392912.1:n.14-1199C>T | |
| ENST00000463007.5:n.547-1199C>T | ||
| ENST00000493582.5:n.567-1199C>T | ||
| ENST00000496347.1:n.78-1199C>T | ||
| ENST00000535493.5:n.438-1199C>T | ||
| ENST00000543185.5:c.-257-1199C>T | ENSP00000440481.2:n.-257-1199C>T | |
| NM_006037.3:c.95-1199C>T | NP_006028.2:n.95-1199C>T | |
| XM_006712877.2:c.167-1199C>T | XP_006712940.1:n.167-1199C>T | |
| XM_006712878.2:c.95-1199C>T | XP_006712941.1:n.95-1199C>T | |
| XM_006712879.2:c.14-1199C>T | XP_006712942.1:n.14-1199C>T | |
| XM_006712880.2:c.14-1199C>T | XP_006712943.1:n.14-1199C>T | |
| XM_011512217.1:c.167-1199C>T | XP_011510519.1:n.167-1199C>T | |
| XM_011512218.1:c.167-1199C>T | XP_011510520.1:n.167-1199C>T | |
| XM_011512219.1:c.167-1199C>T | XP_011510521.1:n.167-1199C>T | |
| XM_011512220.1:c.98-1199C>T | XP_011510522.1:n.98-1199C>T | |
| XM_011512221.1:c.95-1199C>T | XP_011510523.1:n.95-1199C>T | |
| XM_011512222.1:c.95-1199C>T | XP_011510524.1:n.95-1199C>T | |
| XM_011512223.1:c.95-1199C>T | XP_011510525.1:n.95-1199C>T | |
| XM_011512224.1:c.80-1199C>T | XP_011510526.1:n.80-1199C>T | |
| XM_011512225.1:c.80-1199C>T | XP_011510527.1:n.80-1199C>T | |
| XM_011512226.1:c.23-1199C>T | XP_011510528.1:n.23-1199C>T | |
| XM_011512227.1:c.-50-1199C>T | XP_011510529.1:n.-50-1199C>T | |
| XM_011512228.1:c.14-1199C>T | XP_011510530.1:n.14-1199C>T | |
| XM_011512229.1:c.14-1199C>T | XP_011510531.1:n.14-1199C>T | |
| XM_006712877.3:c.167-1199C>T | XP_006712940.1:n.167-1199C>T | |
| XM_006712878.3:c.95-1199C>T | XP_006712941.1:n.95-1199C>T | |
| XM_006712879.3:c.14-1199C>T | XP_006712942.1:n.14-1199C>T | |
| XM_006712880.3:c.14-1199C>T | XP_006712943.1:n.14-1199C>T | |
| XM_011512217.2:c.167-1199C>T | XP_011510519.1:n.167-1199C>T | |
| XM_011512218.2:c.167-1199C>T | XP_011510520.1:n.167-1199C>T | |
| XM_011512219.2:c.167-1199C>T | XP_011510521.1:n.167-1199C>T | |
| XM_011512220.2:c.98-1199C>T | XP_011510522.1:n.98-1199C>T | |
| XM_011512222.3:c.95-1199C>T | XP_011510524.1:n.95-1199C>T | |
| XM_011512223.2:c.95-1199C>T | XP_011510525.1:n.95-1199C>T | |
| XM_011512224.2:c.80-1199C>T | XP_011510526.1:n.80-1199C>T | |
| XM_011512225.2:c.80-1199C>T | XP_011510527.1:n.80-1199C>T | |
| XM_011512226.2:c.23-1199C>T | XP_011510528.1:n.23-1199C>T | |
| XM_011512227.2:c.-50-1199C>T | XP_011510529.1:n.-50-1199C>T | |
| XM_017005394.1:c.167-1199C>T | XP_016860883.1:n.167-1199C>T | |
| XM_024453257.1:c.14-1199C>T | XP_024309025.1:n.14-1199C>T | |
| NM_001378414.1:c.95-1199C>T MANE Select | NP_001365343.1:n.95-1199C>T | |
| NM_001378415.1:c.95-1199C>T | NP_001365344.1:n.95-1199C>T | |
| NM_001378416.1:c.95-1199C>T | NP_001365345.1:n.95-1199C>T | |
| NM_001378417.1:c.95-1199C>T | NP_001365346.1:n.95-1199C>T | |
| NM_006037.4:c.95-1199C>T | NP_006028.2:n.95-1199C>T |