Linked Data
dbSNP Id:
rs1790834
gnomAD v2:
18-71948257-G-A
gnomAD v3:
18-74281022-G-A
gnomAD v4:
18-74281022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.74281022G>A , CM000680.2:g.74281022G>A | GRCh38 |
| NC_000018.9:g.71948257G>A , CM000680.1:g.71948257G>A | GRCh37 |
| NC_000018.8:g.70099237G>A | NCBI36 |
| NG_023211.1:g.15965C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340533.9:c.129+10725C>T MANE Select | ENSP00000341625.4:n.129+10725C>T | |
| ENST00000299438.13:c.-94+9866C>T | ENSP00000299438.9:n.-94+9866C>T | |
| ENST00000340533.8:c.129+10725C>T | ENSP00000341625.4:n.129+10725C>T | |
| ENST00000397914.4:c.129+10725C>T | ENSP00000381011.4:n.129+10725C>T | |
| ENST00000494131.6:c.129+10725C>T | ENSP00000436461.2:n.129+10725C>T | |
| ENST00000583418.1:n.211+10725C>T | ||
| NM_001190807.2:c.129+10725C>T | NP_001177736.1:n.129+10725C>T | |
| NM_001914.3:c.129+10725C>T | NP_001905.1:n.129+10725C>T | |
| NM_148923.3:c.129+10725C>T | NP_683725.1:n.129+10725C>T | |
| XM_011525835.1:c.129+10725C>T | XP_011524137.1:n.129+10725C>T | |
| XM_011525835.2:c.129+10725C>T | XP_011524137.1:n.129+10725C>T | |
| NM_148923.4:c.129+10725C>T MANE Select | NP_683725.1:n.129+10725C>T | |
| NM_001190807.3:c.129+10725C>T | NP_001177736.1:n.129+10725C>T | |
| NM_001914.4:c.129+10725C>T | NP_001905.1:n.129+10725C>T |