Linked Data
dbSNP Id:
rs1257386928
gnomAD v2:
1-76226980-G-C
gnomAD v3:
1-75761295-G-C
gnomAD v4:
1-75761295-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761295G>C , CM000663.2:g.75761295G>C | GRCh38 |
| NC_000001.10:g.76226980G>C , CM000663.1:g.76226980G>C | GRCh37 |
| NC_000001.9:g.75999568G>C | NCBI36 |
| NG_007045.2:g.41938G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1119G>C MANE Select | ENSP00000359878.5:p.Val373= | |
| ENST00000473018.3:n.3243G>C | ||
| ENST00000532207.6:n.2130G>C | ||
| ENST00000541113.6:c.1023G>C | ENSP00000442324.2:p.Val341= | |
| ENST00000679509.1:n.2081G>C | ||
| ENST00000679530.1:c.*887G>C | ENSP00000506454.1:n.*887G>C | |
| ENST00000679615.1:n.3134G>C | ||
| ENST00000679687.1:c.681G>C | ENSP00000506598.1:p.Val227= | |
| ENST00000679704.1:c.*885G>C | ENSP00000505117.1:n.*885G>C | |
| ENST00000679709.1:c.*1082G>C | ENSP00000506623.1:n.*1082G>C | |
| ENST00000679976.1:c.*703G>C | ENSP00000505565.1:n.*703G>C | |
| ENST00000680166.1:n.4408G>C | ||
| ENST00000680315.1:n.1002G>C | ||
| ENST00000680517.1:c.*507G>C | ENSP00000505803.1:n.*507G>C | |
| ENST00000680582.1:n.2081G>C | ||
| ENST00000680613.1:c.*612G>C | ENSP00000506114.1:n.*612G>C | |
| ENST00000680662.1:c.*1033G>C | ENSP00000505080.1:n.*1033G>C | |
| ENST00000680691.1:c.*782G>C | ENSP00000506487.1:n.*782G>C | |
| ENST00000680694.1:c.*707G>C | ENSP00000505658.1:n.*707G>C | |
| ENST00000680743.1:c.*908G>C | ENSP00000505073.1:n.*908G>C | |
| ENST00000680749.1:c.*404G>C | ENSP00000505122.1:n.*404G>C | |
| ENST00000680798.1:c.*594G>C | ENSP00000505670.1:n.*594G>C | |
| ENST00000680805.1:c.978G>C | ENSP00000505447.1:p.Val326= | |
| ENST00000680844.1:c.*903G>C | ENSP00000506541.1:n.*903G>C | |
| ENST00000680948.1:c.*986G>C | ENSP00000505441.1:n.*986G>C | |
| ENST00000680964.1:c.*212G>C | ENSP00000505961.1:n.*212G>C | |
| ENST00000681037.1:c.*2603G>C | ENSP00000506025.1:n.*2603G>C | |
| ENST00000681063.1:c.*388G>C | ENSP00000506616.1:n.*388G>C | |
| ENST00000681209.1:c.*774G>C | ENSP00000505877.1:n.*774G>C | |
| ENST00000681278.1:n.1821G>C | ||
| ENST00000681289.1:n.5114G>C | ||
| ENST00000681361.1:c.*786G>C | ENSP00000506679.1:n.*786G>C | |
| ENST00000681430.1:c.*212G>C | ENSP00000506301.1:n.*212G>C | |
| ENST00000681446.1:c.*823G>C | ENSP00000506244.1:n.*823G>C | |
| ENST00000681450.1:c.*790G>C | ENSP00000505660.1:n.*790G>C | |
| ENST00000681548.1:c.*705G>C | ENSP00000505275.1:n.*705G>C | |
| ENST00000681616.1:c.*778G>C | ENSP00000505111.1:n.*778G>C | |
| ENST00000681621.1:c.*703G>C | ENSP00000505770.1:n.*703G>C | |
| ENST00000681680.1:n.3214G>C | ||
| ENST00000681720.1:c.*574G>C | ENSP00000505438.1:n.*574G>C | |
| ENST00000681730.1:n.1341G>C | ||
| ENST00000681790.1:c.861G>C | ENSP00000505130.1:p.Val287= | |
| ENST00000681837.1:n.1735G>C | ||
| ENST00000681913.1:n.3365G>C | ||
| ENST00000681916.1:c.*887G>C | ENSP00000506477.1:n.*887G>C | |
| ENST00000681930.1:n.3243G>C | ||
| ENST00000370834.9:c.1218G>C | ENSP00000359871.5:p.Val406= | |
| ENST00000370841.8:c.1119G>C | ENSP00000359878.4:p.Val373= | |
| ENST00000420607.6:c.1131G>C | ENSP00000409612.2:p.Val377= | |
| ENST00000481374.1:n.392G>C | ||
| ENST00000525808.5:c.*705G>C | ENSP00000434823.1:n.*705G>C | |
| ENST00000526129.5:c.*903G>C | ENSP00000434092.1:n.*903G>C | |
| ENST00000526196.5:c.*887G>C | ENSP00000431953.1:n.*887G>C | |
| ENST00000528016.1:c.160-7882G>C | ENSP00000434284.1:n.160-7882G>C | |
| ENST00000529059.5:n.1028G>C | ||
| ENST00000541113.5:c.1011G>C | ENSP00000442324.1:p.Val337= | |
| NM_000016.5:c.1119G>C | NP_000007.1:p.Val373= | |
| NM_001127328.2:c.1131G>C | NP_001120800.1:p.Val377= | |
| NM_001286042.1:c.1011G>C | NP_001272971.1:p.Val337= | |
| NM_001286043.1:c.1218G>C | NP_001272972.1:p.Val406= | |
| NM_001286044.1:c.552G>C | NP_001272973.1:p.Val184= | |
| NM_000016.6:c.1119G>C MANE Select | NP_000007.1:p.Val373= | |
| NM_001127328.3:c.1131G>C | NP_001120800.1:p.Val377= | |
| NM_001286042.2:c.1011G>C | NP_001272971.1:p.Val337= | |
| NM_001286043.2:c.1218G>C | NP_001272972.1:p.Val406= | |
| NM_001286044.2:c.552G>C | NP_001272973.1:p.Val184= |