Linked Data
ClinVar Variation Id:
2778017
ClinVar RCV Id:
RCV003609336
dbSNP Id:
rs1158253888
gnomAD v4:
1-75761313-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761313T>C , CM000663.2:g.75761313T>C | GRCh38 |
| NC_000001.10:g.76226998T>C , CM000663.1:g.76226998T>C | GRCh37 |
| NC_000001.9:g.75999586T>C | NCBI36 |
| NG_007045.2:g.41956T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.1137T>C MANE Select | ENSP00000359878.5:p.Asn379= | |
| ENST00000473018.3:n.3261T>C | ||
| ENST00000532207.6:n.2148T>C | ||
| ENST00000541113.6:c.1041T>C | ENSP00000442324.2:p.Asn347= | |
| ENST00000679509.1:n.2099T>C | ||
| ENST00000679530.1:c.*905T>C | ENSP00000506454.1:n.*905T>C | |
| ENST00000679615.1:n.3152T>C | ||
| ENST00000679687.1:c.699T>C | ENSP00000506598.1:p.Asn233= | |
| ENST00000679704.1:c.*903T>C | ENSP00000505117.1:n.*903T>C | |
| ENST00000679709.1:c.*1100T>C | ENSP00000506623.1:n.*1100T>C | |
| ENST00000679976.1:c.*721T>C | ENSP00000505565.1:n.*721T>C | |
| ENST00000680166.1:n.4426T>C | ||
| ENST00000680315.1:n.1020T>C | ||
| ENST00000680517.1:c.*525T>C | ENSP00000505803.1:n.*525T>C | |
| ENST00000680582.1:n.2099T>C | ||
| ENST00000680613.1:c.*630T>C | ENSP00000506114.1:n.*630T>C | |
| ENST00000680662.1:c.*1051T>C | ENSP00000505080.1:n.*1051T>C | |
| ENST00000680691.1:c.*800T>C | ENSP00000506487.1:n.*800T>C | |
| ENST00000680694.1:c.*725T>C | ENSP00000505658.1:n.*725T>C | |
| ENST00000680743.1:c.*926T>C | ENSP00000505073.1:n.*926T>C | |
| ENST00000680749.1:c.*422T>C | ENSP00000505122.1:n.*422T>C | |
| ENST00000680798.1:c.*612T>C | ENSP00000505670.1:n.*612T>C | |
| ENST00000680805.1:c.996T>C | ENSP00000505447.1:p.Asn332= | |
| ENST00000680844.1:c.*921T>C | ENSP00000506541.1:n.*921T>C | |
| ENST00000680948.1:c.*1004T>C | ENSP00000505441.1:n.*1004T>C | |
| ENST00000680964.1:c.*230T>C | ENSP00000505961.1:n.*230T>C | |
| ENST00000681037.1:c.*2621T>C | ENSP00000506025.1:n.*2621T>C | |
| ENST00000681063.1:c.*406T>C | ENSP00000506616.1:n.*406T>C | |
| ENST00000681209.1:c.*792T>C | ENSP00000505877.1:n.*792T>C | |
| ENST00000681278.1:n.1839T>C | ||
| ENST00000681289.1:n.5132T>C | ||
| ENST00000681361.1:c.*804T>C | ENSP00000506679.1:n.*804T>C | |
| ENST00000681430.1:c.*230T>C | ENSP00000506301.1:n.*230T>C | |
| ENST00000681446.1:c.*841T>C | ENSP00000506244.1:n.*841T>C | |
| ENST00000681450.1:c.*808T>C | ENSP00000505660.1:n.*808T>C | |
| ENST00000681548.1:c.*723T>C | ENSP00000505275.1:n.*723T>C | |
| ENST00000681616.1:c.*796T>C | ENSP00000505111.1:n.*796T>C | |
| ENST00000681621.1:c.*721T>C | ENSP00000505770.1:n.*721T>C | |
| ENST00000681680.1:n.3232T>C | ||
| ENST00000681720.1:c.*592T>C | ENSP00000505438.1:n.*592T>C | |
| ENST00000681730.1:n.1359T>C | ||
| ENST00000681790.1:c.879T>C | ENSP00000505130.1:p.Asn293= | |
| ENST00000681837.1:n.1753T>C | ||
| ENST00000681913.1:n.3383T>C | ||
| ENST00000681916.1:c.*905T>C | ENSP00000506477.1:n.*905T>C | |
| ENST00000681930.1:n.3261T>C | ||
| ENST00000370834.9:c.1236T>C | ENSP00000359871.5:p.Asn412= | |
| ENST00000370841.8:c.1137T>C | ENSP00000359878.4:p.Asn379= | |
| ENST00000420607.6:c.1149T>C | ENSP00000409612.2:p.Asn383= | |
| ENST00000481374.1:n.410T>C | ||
| ENST00000525808.5:c.*723T>C | ENSP00000434823.1:n.*723T>C | |
| ENST00000526129.5:c.*921T>C | ENSP00000434092.1:n.*921T>C | |
| ENST00000526196.5:c.*905T>C | ENSP00000431953.1:n.*905T>C | |
| ENST00000528016.1:c.160-7864T>C | ENSP00000434284.1:n.160-7864T>C | |
| ENST00000529059.5:n.1046T>C | ||
| ENST00000541113.5:c.1029T>C | ENSP00000442324.1:p.Asn343= | |
| NM_000016.5:c.1137T>C | NP_000007.1:p.Asn379= | |
| NM_001127328.2:c.1149T>C | NP_001120800.1:p.Asn383= | |
| NM_001286042.1:c.1029T>C | NP_001272971.1:p.Asn343= | |
| NM_001286043.1:c.1236T>C | NP_001272972.1:p.Asn412= | |
| NM_001286044.1:c.570T>C | NP_001272973.1:p.Asn190= | |
| NM_000016.6:c.1137T>C MANE Select | NP_000007.1:p.Asn379= | |
| NM_001127328.3:c.1149T>C | NP_001120800.1:p.Asn383= | |
| NM_001286042.2:c.1029T>C | NP_001272971.1:p.Asn343= | |
| NM_001286043.2:c.1236T>C | NP_001272972.1:p.Asn412= | |
| NM_001286044.2:c.570T>C | NP_001272973.1:p.Asn190= |