Linked Data
dbSNP Id:
rs2304003
gnomAD v2:
2-166714081-T-C
gnomAD v3:
2-165857571-T-C
gnomAD v4:
2-165857571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.165857571T>C , CM000664.2:g.165857571T>C | GRCh38 |
| NC_000002.11:g.166714081T>C , CM000664.1:g.166714081T>C | GRCh37 |
| NC_000002.10:g.166422327T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679356.1:c.*4192A>G | ENSP00000506245.1:n.*4192A>G | |
| ENST00000679676.1:c.*4192A>G | ENSP00000505492.1:n.*4192A>G | |
| ENST00000679931.1:c.*3527A>G | ENSP00000505632.1:n.*3527A>G | |
| ENST00000679967.1:c.*4192A>G | ENSP00000506607.1:n.*4192A>G | |
| ENST00000680249.1:n.3782A>G | ||
| ENST00000680327.1:c.*7185A>G | ENSP00000506639.1:n.*7185A>G | |
| ENST00000680657.1:n.6386A>G | ||
| ENST00000680690.1:c.*7395A>G | ENSP00000506121.1:n.*7395A>G | |
| ENST00000680888.1:c.*4192A>G | ENSP00000506276.1:n.*4192A>G | |
| ENST00000680904.1:n.4647A>G | ||
| ENST00000680947.1:c.*7415A>G | ENSP00000506496.1:n.*7415A>G | |
| ENST00000681024.1:c.*7933A>G | ENSP00000506449.1:n.*7933A>G | |
| ENST00000681083.1:c.*7874A>G | ENSP00000506095.1:n.*7874A>G | |
| ENST00000681167.1:n.8021A>G | ||
| ENST00000681483.1:c.*1295A>G | ENSP00000505499.1:n.*1295A>G | |
| ENST00000681502.1:c.*11403A>G | ENSP00000505644.1:n.*11403A>G | |
| ENST00000681952.1:c.*534A>G | ENSP00000506400.1:n.*534A>G | |
| ENST00000392695.6:c.1479A>G | ||
| ENST00000486672.5:n.649A>G | ||
| ENST00000489714.5:n.551A>G | ||
| NR_045375.2:n.1501A>G |