Linked Data
ClinVar Variation Id:
336983
dbSNP Id:
rs13429381
gnomAD v2:
2-71913821-T-G
gnomAD v3:
2-71686691-T-G
gnomAD v4:
2-71686691-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71686691T>G , CM000664.2:g.71686691T>G | GRCh38 |
| NC_000002.11:g.71913821T>G , CM000664.1:g.71913821T>G | GRCh37 |
| NC_000002.10:g.71767329T>G | NCBI36 |
| NG_008694.1:g.238069T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3973T>G | ENSP00000513536.1:n.3973T>G | |
| ENST00000698058.1:c.*199T>G | ENSP00000513537.1:n.*199T>G | |
| ENST00000698059.1:c.*199T>G | ENSP00000513538.1:n.*199T>G | |
| ENST00000258104.8:c.*199T>G MANE Plus Clinical | ENSP00000258104.3:n.*199T>G | |
| ENST00000410020.8:c.*199T>G MANE Select | ENSP00000386881.3:n.*199T>G | |
| ENST00000258104.7:c.*199T>G | ENSP00000258104.3:n.*199T>G | |
| ENST00000479049.6:n.3327T>G | ||
| NM_001130455.1:c.*199T>G | NP_001123927.1:n.*199T>G | |
| NM_001130976.1:c.*199T>G | NP_001124448.1:n.*199T>G | |
| NM_001130977.1:c.*199T>G | NP_001124449.1:n.*199T>G | |
| NM_001130978.1:c.*199T>G | NP_001124450.1:n.*199T>G | |
| NM_001130979.1:c.*199T>G | NP_001124451.1:n.*199T>G | |
| NM_001130980.1:c.*199T>G | NP_001124452.1:n.*199T>G | |
| NM_001130981.1:c.*199T>G | NP_001124453.1:n.*199T>G | |
| NM_001130982.1:c.*199T>G | NP_001124454.1:n.*199T>G | |
| NM_001130983.1:c.*199T>G | NP_001124455.1:n.*199T>G | |
| NM_001130984.1:c.*199T>G | NP_001124456.1:n.*199T>G | |
| NM_001130985.1:c.*199T>G | NP_001124457.1:n.*199T>G | |
| NM_001130986.1:c.*199T>G | NP_001124458.1:n.*199T>G | |
| NM_001130987.1:c.*199T>G | NP_001124459.1:n.*199T>G | |
| NM_003494.3:c.*199T>G | NP_003485.1:n.*199T>G | |
| XM_005264584.3:c.*199T>G | XP_005264641.1:n.*199T>G | |
| XM_005264585.3:c.*199T>G | XP_005264642.1:n.*199T>G | |
| XM_005264584.4:c.*199T>G | XP_005264641.1:n.*199T>G | |
| XM_005264585.5:c.*199T>G | XP_005264642.1:n.*199T>G | |
| NM_001130987.2:c.*199T>G MANE Select | NP_001124459.1:n.*199T>G | |
| NM_001130455.2:c.*199T>G | NP_001123927.1:n.*199T>G | |
| NM_001130976.2:c.*199T>G | NP_001124448.1:n.*199T>G | |
| NM_001130977.2:c.*199T>G | NP_001124449.1:n.*199T>G | |
| NM_001130978.2:c.*199T>G | NP_001124450.1:n.*199T>G | |
| NM_001130979.2:c.*199T>G | NP_001124451.1:n.*199T>G | |
| NM_001130980.2:c.*199T>G | NP_001124452.1:n.*199T>G | |
| NM_001130981.2:c.*199T>G | NP_001124453.1:n.*199T>G | |
| NM_001130982.2:c.*199T>G | NP_001124454.1:n.*199T>G | |
| NM_001130983.2:c.*199T>G | NP_001124455.1:n.*199T>G | |
| NM_001130984.2:c.*199T>G | NP_001124456.1:n.*199T>G | |
| NM_001130985.2:c.*199T>G | NP_001124457.1:n.*199T>G | |
| NM_001130986.2:c.*199T>G | NP_001124458.1:n.*199T>G | |
| NM_003494.4:c.*199T>G MANE Plus Clinical | NP_003485.1:n.*199T>G |