Linked Data
dbSNP Id:
rs10511052
gnomAD v2:
3-76725903-G-A
gnomAD v3:
3-76676752-G-A
gnomAD v4:
3-76676752-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.76676752G>A , CM000665.2:g.76676752G>A | GRCh38 |
| NC_000003.11:g.76725903G>A , CM000665.1:g.76725903G>A | GRCh37 |
| NC_000003.10:g.76808593G>A | NCBI36 |
| NG_027734.1:g.775059G>A | |
| NG_027734.2:g.775059G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471893.2:c.110-421262G>A | ENSP00000418190.2:n.110-421262G>A | |
| ENST00000475334.2:c.130+365335G>A | ENSP00000418446.2:n.130+365335G>A | |
| ENST00000696629.1:c.110-421262G>A | ENSP00000512766.1:n.110-421262G>A | |
| ENST00000696630.1:c.110-421262G>A | ENSP00000512767.1:n.110-421262G>A | |
| ENST00000475034.1:n.322+365335G>A | ||
| ENST00000487694.7:c.110-421262G>A | ENSP00000417335.2:n.110-421262G>A | |
| ENST00000602589.5:c.110-421262G>A | ENSP00000473268.1:n.110-421262G>A | |
| NM_001128929.3:c.110-421262G>A | NP_001122401.1:n.110-421262G>A | |
| XM_011533981.1:c.130+365335G>A | XP_011532283.1:n.130+365335G>A | |
| XM_011533982.1:c.130+365335G>A | XP_011532284.1:n.130+365335G>A | |
| XM_011533983.1:c.130+365335G>A | XP_011532285.1:n.130+365335G>A | |
| XM_011533984.1:c.130+365335G>A | XP_011532286.1:n.130+365335G>A | |
| XM_011533985.1:c.130+365335G>A | XP_011532287.1:n.130+365335G>A | |
| XM_011533981.2:c.130+365335G>A | XP_011532283.1:n.130+365335G>A | |
| XM_017006987.1:c.130+365335G>A | XP_016862476.1:n.130+365335G>A | |
| XM_017006988.1:c.130+365335G>A | XP_016862477.1:n.130+365335G>A | |
| XM_017006989.1:c.130+365335G>A | XP_016862478.1:n.130+365335G>A | |
| XM_017006990.1:c.110-421262G>A | XP_016862479.1:n.110-421262G>A | |
| XM_017006991.1:c.130+365335G>A | XP_016862480.1:n.130+365335G>A | |
| XM_017006992.1:c.110-421262G>A | XP_016862481.1:n.110-421262G>A | |
| XM_017006994.1:c.130+365335G>A | XP_016862483.1:n.130+365335G>A | |
| XM_017006995.1:c.130+365335G>A | XP_016862484.1:n.130+365335G>A | |
| XM_017006996.1:c.110-421262G>A | XP_016862485.1:n.110-421262G>A | |
| XM_017006997.1:c.110-421262G>A | XP_016862486.1:n.110-421262G>A | |
| XM_017007001.1:c.130+365335G>A | XP_016862490.1:n.130+365335G>A | |
| XM_017007002.1:c.130+365335G>A | XP_016862491.1:n.130+365335G>A | |
| XM_017007003.1:c.130+365335G>A | XP_016862492.1:n.130+365335G>A | |
| XM_017007004.1:c.110-421262G>A | XP_016862493.1:n.110-421262G>A | |
| XM_017007005.1:c.110-421262G>A | XP_016862494.1:n.110-421262G>A | |
| NM_001378190.1:c.110-421262G>A | NP_001365119.1:n.110-421262G>A | |
| NM_001378191.1:c.110-421262G>A | NP_001365120.1:n.110-421262G>A | |
| NM_001378192.1:c.130+365335G>A | NP_001365121.1:n.130+365335G>A | |
| NM_001378194.1:c.130+365335G>A | NP_001365123.1:n.130+365335G>A | |
| NM_001378195.1:c.110-421262G>A | NP_001365124.1:n.110-421262G>A | |
| NM_001378196.1:c.110-421262G>A | NP_001365125.1:n.110-421262G>A | |
| NM_001378198.1:c.130+365335G>A | NP_001365127.1:n.130+365335G>A | |
| NM_001378199.1:c.130+365335G>A | NP_001365128.1:n.130+365335G>A | |
| NM_001378200.1:c.110-421262G>A | NP_001365129.1:n.110-421262G>A | |
| NM_001378201.1:c.110-421262G>A | NP_001365130.1:n.110-421262G>A | |
| NM_001378203.1:c.110-421262G>A | NP_001365132.1:n.110-421262G>A | |
| NM_001394212.1:c.130+365335G>A | NP_001381141.1:n.130+365335G>A | |
| NM_001394213.1:c.130+365335G>A | NP_001381142.1:n.130+365335G>A | |
| NM_001394214.1:c.130+365335G>A | NP_001381143.1:n.130+365335G>A | |
| NM_001395657.1:c.130+365335G>A | NP_001382586.1:n.130+365335G>A |