Linked Data
dbSNP Id:
rs1276517119
gnomAD v2:
2-47229888-T-C
gnomAD v3:
2-47002749-T-C
gnomAD v4:
2-47002749-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47002749T>C , CM000664.2:g.47002749T>C | GRCh38 |
| NC_000002.11:g.47229888T>C , CM000664.1:g.47229888T>C | GRCh37 |
| NC_000002.10:g.47083392T>C | NCBI36 |
| NG_034143.1:g.91621T>C | |
| NG_034143.2:g.91621T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698500.1:n.2899-3173T>C | ||
| ENST00000319190.11:c.1066-3173T>C MANE Select | ENSP00000316699.5:n.1066-3173T>C | |
| ENST00000319190.9:c.1066-3173T>C | ENSP00000316699.5:n.1066-3173T>C | |
| ENST00000394850.6:c.1066-3173T>C | ENSP00000378320.2:n.1066-3173T>C | |
| ENST00000409245.5:c.964-3173T>C | ENSP00000386307.1:n.964-3173T>C | |
| ENST00000409825.5:c.1014-3173T>C | ||
| ENST00000441914.5:c.907-3173T>C | ||
| ENST00000461601.5:n.1391-3173T>C | ||
| ENST00000474321.6:n.550-3173T>C | ||
| ENST00000484061.5:n.349-3173T>C | ||
| ENST00000491786.5:n.470-3173T>C | ||
| NM_001288951.1:c.1066-3173T>C | NP_001275880.1:n.1066-3173T>C | |
| NM_001288953.1:c.964-3173T>C | NP_001275882.1:n.964-3173T>C | |
| NM_001288955.1:c.4-3173T>C | NP_001275884.1:n.4-3173T>C | |
| NM_020458.3:c.1066-3173T>C | NP_065191.2:n.1066-3173T>C | |
| XM_005264439.2:c.709-3173T>C | XP_005264496.1:n.709-3173T>C | |
| XM_011532998.1:c.709-3173T>C | XP_011531300.1:n.709-3173T>C | |
| XM_011532999.1:c.1066-3173T>C | XP_011531301.1:n.1066-3173T>C | |
| XM_011533000.1:c.286-3173T>C | XP_011531302.1:n.286-3173T>C | |
| XR_939696.1:n.1371-3173T>C | ||
| XM_005264439.4:c.709-3173T>C | XP_005264496.1:n.709-3173T>C | |
| XM_011532998.3:c.709-3173T>C | XP_011531300.1:n.709-3173T>C | |
| XM_011532999.2:c.1066-3173T>C | XP_011531301.1:n.1066-3173T>C | |
| XM_011533000.3:c.286-3173T>C | XP_011531302.1:n.286-3173T>C | |
| XM_017004524.1:c.1066-3173T>C | XP_016860013.1:n.1066-3173T>C | |
| XM_017004525.1:c.898-3173T>C | XP_016860014.1:n.898-3173T>C | |
| XM_017004526.1:c.1066-3173T>C | XP_016860015.1:n.1066-3173T>C | |
| XM_017004529.1:c.1066-3173T>C | XP_016860018.1:n.1066-3173T>C | |
| XM_024453013.1:c.31-3173T>C | XP_024308781.1:n.31-3173T>C | |
| XR_001738853.2:n.1378-3173T>C | ||
| XR_001738854.1:n.1377-3173T>C | ||
| NM_020458.4:c.1066-3173T>C MANE Select | NP_065191.2:n.1066-3173T>C | |
| NM_001288951.2:c.1066-3173T>C | NP_001275880.1:n.1066-3173T>C | |
| NM_001288953.2:c.964-3173T>C | NP_001275882.1:n.964-3173T>C | |
| NM_001288955.2:c.4-3173T>C | NP_001275884.1:n.4-3173T>C |