Linked Data
dbSNP Id:
rs17059400
gnomAD v2:
6-99782879-A-C
gnomAD v3:
6-99335003-A-C
gnomAD v4:
6-99335003-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99335003A>C , CM000668.2:g.99335003A>C | GRCh38 |
| NC_000006.11:g.99782879A>C , CM000668.1:g.99782879A>C | GRCh37 |
| NC_000006.10:g.99889600A>C | NCBI36 |
| NG_051943.1:g.20308T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389677.6:c.403-1456T>G MANE Select | ENSP00000374328.4:n.403-1456T>G | |
| ENST00000389677.5:c.403-1456T>G | ENSP00000374328.4:n.403-1456T>G | |
| ENST00000480148.1:n.306-1456T>G | ||
| ENST00000538471.1:c.-18+7895T>G | ENSP00000445267.1:n.-18+7895T>G | |
| NM_032511.2:c.403-1456T>G | NP_115900.1:n.403-1456T>G | |
| XM_006715581.2:c.244-1456T>G | XP_006715644.1:n.244-1456T>G | |
| XM_011536186.1:c.244-1456T>G | XP_011534488.1:n.244-1456T>G | |
| XM_011536187.1:c.403-1456T>G | XP_011534489.1:n.403-1456T>G | |
| XM_011536188.1:c.40-1456T>G | XP_011534490.1:n.40-1456T>G | |
| XM_011536189.1:c.403-1456T>G | XP_011534491.1:n.403-1456T>G | |
| NM_001346530.1:c.40-1456T>G | NP_001333459.1:n.40-1456T>G | |
| NM_001346531.1:c.244-1456T>G | NP_001333460.1:n.244-1456T>G | |
| NM_001346532.1:c.244-1456T>G | NP_001333461.1:n.244-1456T>G | |
| NM_001346533.1:c.40-1456T>G | NP_001333462.1:n.40-1456T>G | |
| NM_032511.3:c.403-1456T>G | NP_115900.1:n.403-1456T>G | |
| NR_144463.1:n.554-1456T>G | ||
| NR_144464.1:n.519-1456T>G | ||
| XM_011536189.3:c.403-1456T>G | XP_011534491.1:n.403-1456T>G | |
| NM_032511.4:c.403-1456T>G MANE Select | NP_115900.1:n.403-1456T>G | |
| NM_001346530.2:c.40-1456T>G | NP_001333459.1:n.40-1456T>G | |
| NM_001346531.2:c.244-1456T>G | NP_001333460.1:n.244-1456T>G | |
| NR_144463.2:n.300-1456T>G |