Linked Data
ClinVar Variation Id:
875361
ClinVar RCV Id:
RCV001099149
dbSNP Id:
rs768440594
ExAC:
1:76226883 C / G
gnomAD v2:
1-76226883-C-G
gnomAD v4:
1-75761198-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761198C>G , CM000663.2:g.75761198C>G | GRCh38 |
| NC_000001.10:g.76226883C>G , CM000663.1:g.76226883C>G | GRCh37 |
| NC_000001.9:g.75999471C>G | NCBI36 |
| NG_007045.2:g.41841C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1022C>G MANE Select | ENSP00000359878.5:p.Ala341Gly | |
| ENST00000473018.3:n.3146C>G | ||
| ENST00000532207.6:n.2033C>G | ||
| ENST00000541113.6:c.926C>G | ENSP00000442324.2:p.Ala309Gly | |
| ENST00000679509.1:n.1984C>G | ||
| ENST00000679530.1:c.*790C>G | ENSP00000506454.1:n.*790C>G | |
| ENST00000679615.1:n.3037C>G | ||
| ENST00000679687.1:c.584C>G | ENSP00000506598.1:p.Ala195Gly | |
| ENST00000679704.1:c.*788C>G | ENSP00000505117.1:n.*788C>G | |
| ENST00000679709.1:c.*985C>G | ENSP00000506623.1:n.*985C>G | |
| ENST00000679976.1:c.*606C>G | ENSP00000505565.1:n.*606C>G | |
| ENST00000680166.1:n.4311C>G | ||
| ENST00000680315.1:n.905C>G | ||
| ENST00000680517.1:c.*410C>G | ENSP00000505803.1:n.*410C>G | |
| ENST00000680582.1:n.1984C>G | ||
| ENST00000680613.1:c.*515C>G | ENSP00000506114.1:n.*515C>G | |
| ENST00000680662.1:c.*936C>G | ENSP00000505080.1:n.*936C>G | |
| ENST00000680691.1:c.*685C>G | ENSP00000506487.1:n.*685C>G | |
| ENST00000680694.1:c.*610C>G | ENSP00000505658.1:n.*610C>G | |
| ENST00000680743.1:c.*811C>G | ENSP00000505073.1:n.*811C>G | |
| ENST00000680749.1:c.*307C>G | ENSP00000505122.1:n.*307C>G | |
| ENST00000680798.1:c.*497C>G | ENSP00000505670.1:n.*497C>G | |
| ENST00000680805.1:c.881C>G | ENSP00000505447.1:p.Ala294Gly | |
| ENST00000680844.1:c.*806C>G | ENSP00000506541.1:n.*806C>G | |
| ENST00000680948.1:c.*889C>G | ENSP00000505441.1:n.*889C>G | |
| ENST00000680964.1:c.*115C>G | ENSP00000505961.1:n.*115C>G | |
| ENST00000681037.1:c.*2506C>G | ENSP00000506025.1:n.*2506C>G | |
| ENST00000681063.1:c.*291C>G | ENSP00000506616.1:n.*291C>G | |
| ENST00000681209.1:c.*677C>G | ENSP00000505877.1:n.*677C>G | |
| ENST00000681278.1:n.1724C>G | ||
| ENST00000681289.1:n.5017C>G | ||
| ENST00000681361.1:c.*689C>G | ENSP00000506679.1:n.*689C>G | |
| ENST00000681430.1:c.*115C>G | ENSP00000506301.1:n.*115C>G | |
| ENST00000681446.1:c.*726C>G | ENSP00000506244.1:n.*726C>G | |
| ENST00000681450.1:c.*693C>G | ENSP00000505660.1:n.*693C>G | |
| ENST00000681548.1:c.*608C>G | ENSP00000505275.1:n.*608C>G | |
| ENST00000681616.1:c.*681C>G | ENSP00000505111.1:n.*681C>G | |
| ENST00000681621.1:c.*606C>G | ENSP00000505770.1:n.*606C>G | |
| ENST00000681680.1:n.3117C>G | ||
| ENST00000681720.1:c.*477C>G | ENSP00000505438.1:n.*477C>G | |
| ENST00000681730.1:n.1244C>G | ||
| ENST00000681790.1:c.764C>G | ENSP00000505130.1:p.Ala255Gly | |
| ENST00000681837.1:n.1638C>G | ||
| ENST00000681913.1:n.3268C>G | ||
| ENST00000681916.1:c.*790C>G | ENSP00000506477.1:n.*790C>G | |
| ENST00000681930.1:n.3146C>G | ||
| ENST00000370834.9:c.1121C>G | ENSP00000359871.5:p.Ala374Gly | |
| ENST00000370841.8:c.1022C>G | ENSP00000359878.4:p.Ala341Gly | |
| ENST00000420607.6:c.1034C>G | ENSP00000409612.2:p.Ala345Gly | |
| ENST00000481374.1:n.295C>G | ||
| ENST00000525808.5:c.*608C>G | ENSP00000434823.1:n.*608C>G | |
| ENST00000526129.5:c.*806C>G | ENSP00000434092.1:n.*806C>G | |
| ENST00000526196.5:c.*790C>G | ENSP00000431953.1:n.*790C>G | |
| ENST00000528016.1:c.160-7979C>G | ENSP00000434284.1:n.160-7979C>G | |
| ENST00000529059.5:n.931C>G | ||
| ENST00000532207.5:n.752C>G | ||
| ENST00000534334.5:c.*763C>G | ENSP00000435584.1:n.*763C>G | |
| ENST00000541113.5:c.914C>G | ENSP00000442324.1:p.Ala305Gly | |
| NM_000016.5:c.1022C>G | NP_000007.1:p.Ala341Gly | |
| NM_001127328.2:c.1034C>G | NP_001120800.1:p.Ala345Gly | |
| NM_001286042.1:c.914C>G | NP_001272971.1:p.Ala305Gly | |
| NM_001286043.1:c.1121C>G | NP_001272972.1:p.Ala374Gly | |
| NM_001286044.1:c.455C>G | NP_001272973.1:p.Ala152Gly | |
| NM_000016.6:c.1022C>G MANE Select | NP_000007.1:p.Ala341Gly | |
| NM_001127328.3:c.1034C>G | NP_001120800.1:p.Ala345Gly | |
| NM_001286042.2:c.914C>G | NP_001272971.1:p.Ala305Gly | |
| NM_001286043.2:c.1121C>G | NP_001272972.1:p.Ala374Gly | |
| NM_001286044.2:c.455C>G | NP_001272973.1:p.Ala152Gly |