Linked Data
dbSNP Id:
rs1298891485
gnomAD v2:
5-106982510-A-G
gnomAD v3:
5-107646809-A-G
gnomAD v4:
5-107646809-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.107646809A>G , CM000667.2:g.107646809A>G | GRCh38 |
| NC_000005.9:g.106982510A>G , CM000667.1:g.106982510A>G | GRCh37 |
| NC_000005.8:g.107010409A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333274.11:c.125+23680T>C MANE Select | ENSP00000328777.6:n.125+23680T>C | |
| ENST00000333274.10:c.125+23680T>C | ENSP00000328777.6:n.125+23680T>C | |
| ENST00000504941.1:n.397+23680T>C | ||
| ENST00000509503.1:c.125+23680T>C | ENSP00000426989.1:n.125+23680T>C | |
| NM_001962.2:c.125+23680T>C | NP_001953.1:n.125+23680T>C | |
| XM_006714565.1:c.125+23680T>C | XP_006714628.1:n.125+23680T>C | |
| XM_006714565.3:c.125+23680T>C | XP_006714628.1:n.125+23680T>C | |
| NM_001962.3:c.125+23680T>C MANE Select | NP_001953.1:n.125+23680T>C |