Linked Data
dbSNP Id:
rs17086172
gnomAD v2:
18-70227021-T-C
gnomAD v3:
18-72559786-T-C
gnomAD v4:
18-72559786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.72559786T>C , CM000680.2:g.72559786T>C | GRCh38 |
| NC_000018.9:g.70227021T>C , CM000680.1:g.70227021T>C | GRCh37 |
| NC_000018.8:g.68378001T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000580889.1:n.105-7150A>G | ||
| ENST00000581073.1:c.16-21014A>G | ENSP00000462632.1:n.16-21014A>G | |
| XM_006722394.2:c.-909-7150A>G | XP_006722457.1:n.-909-7150A>G | |
| XM_011525823.1:c.-909-7150A>G | XP_011524125.1:n.-909-7150A>G | |
| XM_011525824.1:c.-912-7150A>G | XP_011524126.1:n.-912-7150A>G | |
| XM_011525825.1:c.-864-7150A>G | XP_011524127.1:n.-864-7150A>G | |
| XM_006722394.3:c.-909-7150A>G | XP_006722457.1:n.-909-7150A>G | |
| XM_011525824.2:c.-912-7150A>G | XP_011524126.1:n.-912-7150A>G | |
| XM_017025559.1:c.-1413-7150A>G | XP_016881048.1:n.-1413-7150A>G |