Linked Data
dbSNP Id:
rs4796119
gnomAD v3:
17-35866084-T-C
gnomAD v4:
17-35866084-T-C
MyVariant Identifiers:
chr17:g.35866084T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35866084T>C , CM000679.2:g.35866084T>C | GRCh38 |
| NC_000017.9:g.31217201T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000604834.6:c.138+640A>G MANE Select | ENSP00000473941.1:n.138+640A>G | |
| ENST00000603218.1:c.138+640A>G | ENSP00000474337.1:n.138+640A>G | |
| ENST00000603323.5:c.138+640A>G | ENSP00000474391.1:n.138+640A>G | |
| ENST00000603852.5:c.36+640A>G | ENSP00000474899.1:n.36+640A>G | |
| ENST00000603870.5:c.138+640A>G | ENSP00000473760.1:n.138+640A>G | |
| ENST00000604376.1:n.259+640A>G | ||
| ENST00000604400.5:n.235+640A>G | ||
| ENST00000604834.5:c.138+640A>G | ENSP00000473941.1:n.138+640A>G | |
| ENST00000605080.5:c.36+640A>G | ENSP00000474893.1:n.36+640A>G | |
| NM_152781.2:c.138+640A>G | NP_689994.2:n.138+640A>G | |
| XM_005278233.2:c.36+640A>G | XP_005278290.1:n.36+640A>G | |
| XM_005278234.1:c.138+640A>G | XP_005278291.1:n.138+640A>G | |
| XM_005278235.1:c.36+640A>G | XP_005278292.1:n.36+640A>G | |
| XM_011524585.1:c.93+640A>G | XP_011522887.1:n.93+640A>G | |
| XM_011524586.1:c.36+640A>G | XP_011522888.1:n.36+640A>G | |
| XR_254513.3:n.251+640A>G | ||
| XR_934432.1:n.287+640A>G | ||
| XR_934433.1:n.246+640A>G | ||
| XR_934434.1:n.259+640A>G | ||
| NM_001321395.1:c.138+640A>G | NP_001308324.1:n.138+640A>G | |
| NM_152781.3:c.138+640A>G | NP_689994.2:n.138+640A>G | |
| NR_135630.1:n.287+640A>G | ||
| XM_011524586.2:c.36+640A>G | XP_011522888.1:n.36+640A>G | |
| XM_017024424.2:c.138+640A>G | XP_016879913.1:n.138+640A>G | |
| XR_934432.3:n.273+640A>G | ||
| NM_001321395.2:c.138+640A>G | NP_001308324.1:n.138+640A>G | |
| NM_152781.4:c.138+640A>G MANE Select | NP_689994.2:n.138+640A>G | |
| NR_135630.2:n.287+640A>G |