Linked Data
dbSNP Id:
rs1250883819
gnomAD v2:
5-158756057-C-G
gnomAD v3:
5-159329049-C-G
gnomAD v4:
5-159329049-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159329049C>G , CM000667.2:g.159329049C>G | GRCh38 |
| NC_000005.9:g.158756057C>G , CM000667.1:g.158756057C>G | GRCh37 |
| NC_000005.8:g.158688635C>G | NCBI36 |
| NG_009618.1:g.6425G>C , LRG_71:g.6425G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-149+1383G>C | ENSP00000512849.1:n.-149+1383G>C | |
| ENST00000696751.1:c.-1+1383G>C | ENSP00000512850.1:n.-1+1383G>C | |
| ENST00000696752.1:n.432+1383G>C | ||
| ENST00000231228.3:c.-1+1383G>C MANE Select | ENSP00000231228.2:n.-1+1383G>C | |
| ENST00000231228.2:c.-1+1383G>C | ENSP00000231228.2:n.-1+1383G>C | |
| NM_002187.2:c.-1+1383G>C , LRG_71t1:c.-1+1383G>C | NP_002178.2:n.-1+1383G>C | |
| NM_002187.3:c.-1+1383G>C MANE Select | NP_002178.2:n.-1+1383G>C |