Linked Data
dbSNP Id:
rs181303016
gnomAD v2:
2-141720979-T-G
gnomAD v3:
2-140963410-T-G
gnomAD v4:
2-140963410-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.140963410T>G , CM000664.2:g.140963410T>G | GRCh38 |
| NC_000002.11:g.141720979T>G , CM000664.1:g.141720979T>G | GRCh37 |
| NC_000002.10:g.141437449T>G | NCBI36 |
| NG_051023.1:g.1174054A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389484.8:c.2888-11470A>C MANE Select | ENSP00000374135.3:n.2888-11470A>C | |
| ENST00000389484.7:c.2888-11470A>C | ENSP00000374135.3:n.2888-11470A>C | |
| ENST00000434794.1:c.323-11470A>C | ENSP00000413239.1:n.323-11470A>C | |
| ENST00000618808.4:c.2546-11470A>C | ENSP00000478868.1:n.2546-11470A>C | |
| NM_018557.2:c.2888-11470A>C | NP_061027.2:n.2888-11470A>C | |
| XM_011511352.1:c.2999-11470A>C | XP_011509654.1:n.2999-11470A>C | |
| XM_017004341.1:c.2498-11470A>C | XP_016859830.1:n.2498-11470A>C | |
| XR_001738778.1:n.4622-11470A>C | ||
| NM_018557.3:c.2888-11470A>C MANE Select | NP_061027.2:n.2888-11470A>C |