Linked Data
dbSNP Id:
rs374626930
ExAC:
2:85780230 T / C
gnomAD v2:
2-85780230-T-C
gnomAD v3:
2-85553107-T-C
gnomAD v4:
2-85553107-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85553107T>C , CM000664.2:g.85553107T>C | GRCh38 |
| NC_000002.11:g.85780230T>C , CM000664.1:g.85780230T>C | GRCh37 |
| NC_000002.10:g.85633741T>C | NCBI36 |
| NG_011811.2:g.13428A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000473665.2:n.5200-37A>G | ||
| ENST00000482662.2:n.3607-37A>G | ||
| ENST00000685865.1:n.1559-37A>G | ||
| ENST00000687250.1:n.1259-37A>G | ||
| ENST00000687995.1:n.1508-37A>G | ||
| ENST00000688205.1:c.*749-37A>G | ENSP00000509673.1:n.*749-37A>G | |
| ENST00000688788.1:n.1395-37A>G | ||
| ENST00000689276.1:c.1087-37A>G | ENSP00000510012.1:n.1087-37A>G | |
| ENST00000689576.1:c.1156-37A>G | ENSP00000508712.1:n.1156-37A>G | |
| ENST00000690108.1:c.*812-37A>G | ENSP00000510617.1:n.*812-37A>G | |
| ENST00000690468.1:c.877-37A>G | ENSP00000509078.1:n.877-37A>G | |
| ENST00000690595.1:c.481-37A>G | ENSP00000508979.1:n.481-37A>G | |
| ENST00000691348.1:c.985-37A>G | ENSP00000509369.1:n.985-37A>G | |
| ENST00000691410.1:c.*733-37A>G | ENSP00000508479.1:n.*733-37A>G | |
| ENST00000693287.1:c.472-37A>G | ENSP00000510264.1:n.472-37A>G | |
| ENST00000693681.1:c.469-37A>G | ENSP00000510789.1:n.469-37A>G | |
| ENST00000233838.9:c.1156-37A>G MANE Select | ENSP00000233838.3:n.1156-37A>G | |
| ENST00000233838.8:c.1156-37A>G | ENSP00000233838.3:n.1156-37A>G | |
| ENST00000430215.7:c.985-37A>G | ENSP00000408045.3:n.985-37A>G | |
| ENST00000465637.5:n.179-5103A>G | ||
| ENST00000473665.1:n.649-37A>G | ||
| ENST00000482662.1:n.573-37A>G | ||
| NM_000821.5:c.1156-37A>G | NP_000812.2:n.1156-37A>G | |
| NM_000821.6:c.1156-37A>G | NP_000812.2:n.1156-37A>G | |
| NM_001142269.2:c.985-37A>G | NP_001135741.1:n.985-37A>G | |
| NM_001142269.3:c.985-37A>G | NP_001135741.1:n.985-37A>G | |
| XM_005264259.3:c.1156-37A>G | XP_005264316.1:n.1156-37A>G | |
| XM_011532764.1:c.334-37A>G | XP_011531066.1:n.334-37A>G | |
| XM_011532765.1:c.334-37A>G | XP_011531067.1:n.334-37A>G | |
| XR_939677.1:n.1221-37A>G | ||
| XM_005264259.5:c.1156-37A>G | XP_005264316.1:n.1156-37A>G | |
| XM_011532764.3:c.334-37A>G | XP_011531066.1:n.334-37A>G | |
| XM_011532765.3:c.334-37A>G | XP_011531067.1:n.334-37A>G | |
| XM_017003803.2:c.985-37A>G | XP_016859292.1:n.985-37A>G | |
| XR_001738703.2:n.1221-37A>G | ||
| NM_000821.7:c.1156-37A>G MANE Select | NP_000812.2:n.1156-37A>G | |
| NM_001142269.4:c.985-37A>G | NP_001135741.1:n.985-37A>G |