Linked Data
dbSNP Id:
rs1423269
gnomAD v2:
5-95255724-A-G
gnomAD v3:
5-95920020-A-G
gnomAD v4:
5-95920020-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.95920020A>G , CM000667.2:g.95920020A>G | GRCh38 |
| NC_000005.9:g.95255724A>G , CM000667.1:g.95255724A>G | GRCh37 |
| NC_000005.8:g.95281480A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237853.9:c.196-475T>C MANE Select | ENSP00000237853.4:n.196-475T>C | |
| ENST00000237853.8:c.196-475T>C | ENSP00000237853.4:n.196-475T>C | |
| ENST00000506628.1:n.262-13238T>C | ||
| ENST00000508694.1:n.13-475T>C | ||
| ENST00000513343.1:c.196-18940T>C | ENSP00000423915.1:n.196-18940T>C | |
| ENST00000635633.1:c.231-475T>C | ||
| NM_012081.5:c.196-475T>C | NP_036213.2:n.196-475T>C | |
| XM_006714575.1:c.31-475T>C | XP_006714638.1:n.31-475T>C | |
| XM_011543280.1:c.-79-6086T>C | XP_011541582.1:n.-79-6086T>C | |
| XM_006714575.3:c.31-475T>C | XP_006714638.1:n.31-475T>C | |
| XM_017009239.1:c.196-475T>C | XP_016864728.1:n.196-475T>C | |
| XM_017009240.2:c.-201-475T>C | XP_016864729.1:n.-201-475T>C | |
| XM_017009241.2:c.-79-6086T>C | XP_016864730.1:n.-79-6086T>C | |
| XM_017009242.1:c.-201-475T>C | XP_016864731.1:n.-201-475T>C | |
| XM_017009243.2:c.-454-475T>C | XP_016864732.1:n.-454-475T>C | |
| NM_012081.6:c.196-475T>C MANE Select | NP_036213.2:n.196-475T>C |