Linked Data
ClinVar Variation Id:
2872623
ClinVar RCV Id:
RCV003610582
dbSNP Id:
rs1557466699
gnomAD v4:
1-75761163-A-G
MyVariant Identifiers:
chr1:g.76226848A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761163A>G , CM000663.2:g.75761163A>G | GRCh38 |
| NC_000001.10:g.76226848A>G , CM000663.1:g.76226848A>G | GRCh37 |
| NC_000001.9:g.75999436A>G | NCBI36 |
| NG_007045.2:g.41806A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.987A>G MANE Select | ENSP00000359878.5:p.Lys329= | |
| ENST00000473018.3:n.3111A>G | ||
| ENST00000532207.6:n.1998A>G | ||
| ENST00000541113.6:c.891A>G | ENSP00000442324.2:p.Lys297= | |
| ENST00000679509.1:n.1949A>G | ||
| ENST00000679530.1:c.*755A>G | ENSP00000506454.1:n.*755A>G | |
| ENST00000679615.1:n.3002A>G | ||
| ENST00000679687.1:c.549A>G | ENSP00000506598.1:p.Lys183= | |
| ENST00000679704.1:c.*753A>G | ENSP00000505117.1:n.*753A>G | |
| ENST00000679709.1:c.*950A>G | ENSP00000506623.1:n.*950A>G | |
| ENST00000679976.1:c.*571A>G | ENSP00000505565.1:n.*571A>G | |
| ENST00000680166.1:n.4276A>G | ||
| ENST00000680315.1:n.870A>G | ||
| ENST00000680517.1:c.*375A>G | ENSP00000505803.1:n.*375A>G | |
| ENST00000680582.1:n.1949A>G | ||
| ENST00000680613.1:c.*480A>G | ENSP00000506114.1:n.*480A>G | |
| ENST00000680662.1:c.*901A>G | ENSP00000505080.1:n.*901A>G | |
| ENST00000680691.1:c.*650A>G | ENSP00000506487.1:n.*650A>G | |
| ENST00000680694.1:c.*575A>G | ENSP00000505658.1:n.*575A>G | |
| ENST00000680743.1:c.*776A>G | ENSP00000505073.1:n.*776A>G | |
| ENST00000680749.1:c.*272A>G | ENSP00000505122.1:n.*272A>G | |
| ENST00000680798.1:c.*462A>G | ENSP00000505670.1:n.*462A>G | |
| ENST00000680805.1:c.846A>G | ENSP00000505447.1:p.Lys282= | |
| ENST00000680844.1:c.*771A>G | ENSP00000506541.1:n.*771A>G | |
| ENST00000680948.1:c.*854A>G | ENSP00000505441.1:n.*854A>G | |
| ENST00000680964.1:c.*80A>G | ENSP00000505961.1:n.*80A>G | |
| ENST00000681037.1:c.*2471A>G | ENSP00000506025.1:n.*2471A>G | |
| ENST00000681063.1:c.*256A>G | ENSP00000506616.1:n.*256A>G | |
| ENST00000681209.1:c.*642A>G | ENSP00000505877.1:n.*642A>G | |
| ENST00000681278.1:n.1689A>G | ||
| ENST00000681289.1:n.4982A>G | ||
| ENST00000681361.1:c.*654A>G | ENSP00000506679.1:n.*654A>G | |
| ENST00000681430.1:c.*80A>G | ENSP00000506301.1:n.*80A>G | |
| ENST00000681446.1:c.*691A>G | ENSP00000506244.1:n.*691A>G | |
| ENST00000681450.1:c.*658A>G | ENSP00000505660.1:n.*658A>G | |
| ENST00000681548.1:c.*573A>G | ENSP00000505275.1:n.*573A>G | |
| ENST00000681616.1:c.*646A>G | ENSP00000505111.1:n.*646A>G | |
| ENST00000681621.1:c.*571A>G | ENSP00000505770.1:n.*571A>G | |
| ENST00000681680.1:n.3082A>G | ||
| ENST00000681720.1:c.*442A>G | ENSP00000505438.1:n.*442A>G | |
| ENST00000681730.1:n.1209A>G | ||
| ENST00000681790.1:c.729A>G | ENSP00000505130.1:p.Lys243= | |
| ENST00000681837.1:n.1603A>G | ||
| ENST00000681913.1:n.3233A>G | ||
| ENST00000681916.1:c.*755A>G | ENSP00000506477.1:n.*755A>G | |
| ENST00000681930.1:n.3111A>G | ||
| ENST00000370834.9:c.1086A>G | ENSP00000359871.5:p.Lys362= | |
| ENST00000370841.8:c.987A>G | ENSP00000359878.4:p.Lys329= | |
| ENST00000420607.6:c.999A>G | ENSP00000409612.2:p.Lys333= | |
| ENST00000481374.1:n.260A>G | ||
| ENST00000525808.5:c.*573A>G | ENSP00000434823.1:n.*573A>G | |
| ENST00000526129.5:c.*771A>G | ENSP00000434092.1:n.*771A>G | |
| ENST00000526196.5:c.*755A>G | ENSP00000431953.1:n.*755A>G | |
| ENST00000528016.1:c.160-8014A>G | ENSP00000434284.1:n.160-8014A>G | |
| ENST00000529059.5:n.896A>G | ||
| ENST00000532207.5:n.717A>G | ||
| ENST00000534334.5:c.*728A>G | ENSP00000435584.1:n.*728A>G | |
| ENST00000541113.5:c.879A>G | ENSP00000442324.1:p.Lys293= | |
| NM_000016.5:c.987A>G | NP_000007.1:p.Lys329= | |
| NM_001127328.2:c.999A>G | NP_001120800.1:p.Lys333= | |
| NM_001286042.1:c.879A>G | NP_001272971.1:p.Lys293= | |
| NM_001286043.1:c.1086A>G | NP_001272972.1:p.Lys362= | |
| NM_001286044.1:c.420A>G | NP_001272973.1:p.Lys140= | |
| NM_000016.6:c.987A>G MANE Select | NP_000007.1:p.Lys329= | |
| NM_001127328.3:c.999A>G | NP_001120800.1:p.Lys333= | |
| NM_001286042.2:c.879A>G | NP_001272971.1:p.Lys293= | |
| NM_001286043.2:c.1086A>G | NP_001272972.1:p.Lys362= | |
| NM_001286044.2:c.420A>G | NP_001272973.1:p.Lys140= |