Linked Data
ClinVar Variation Id:
359108
dbSNP Id:
rs780748786
ExAC:
7:143029607 G / T
gnomAD v2:
7-143029607-G-T
gnomAD v3:
7-143332514-G-T
gnomAD v4:
7-143332514-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143332514G>T , CM000669.2:g.143332514G>T | GRCh38 |
| NC_000007.13:g.143029607G>T , CM000669.1:g.143029607G>T | GRCh37 |
| NC_000007.12:g.142739729G>T | NCBI36 |
| NG_009815.1:g.21389G>T | |
| NG_009815.2:g.21389G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1251+11G>T | ENSP00000498052.2:n.1251+11G>T | |
| ENST00000343257.7:c.1251+11G>T MANE Select | ENSP00000339867.2:n.1251+11G>T | |
| ENST00000432192.6:c.1075+11G>T | ||
| ENST00000343257.6:c.1251+11G>T | ENSP00000339867.2:n.1251+11G>T | |
| NM_000083.2:c.1251+11G>T | NP_000074.2:n.1251+11G>T | |
| NR_046453.1:n.1341+11G>T | ||
| XM_011515781.1:c.1262G>T | XP_011514083.1:p.Trp421Leu | |
| XM_011515782.1:c.-3-210G>T | XP_011514084.1:n.-3-210G>T | |
| XM_011515782.2:c.-3-210G>T | XP_011514084.1:n.-3-210G>T | |
| XM_017011739.1:c.812G>T | XP_016867228.1:p.Trp271Leu | |
| XM_017011740.1:c.801+11G>T | XP_016867229.1:n.801+11G>T | |
| NM_000083.3:c.1251+11G>T MANE Select | NP_000074.3:n.1251+11G>T | |
| NR_046453.2:n.1356+11G>T |