Linked Data
dbSNP Id:
rs2269803
gnomAD v2:
12-112326145-T-C
gnomAD v3:
12-111888341-T-C
gnomAD v4:
12-111888341-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111888341T>C , CM000674.2:g.111888341T>C | GRCh38 |
| NC_000012.11:g.112326145T>C , CM000674.1:g.112326145T>C | GRCh37 |
| NC_000012.10:g.110810528T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000551404.7:c.970-147T>C | ENSP00000449381.2:n.970-147T>C | |
| ENST00000550735.7:c.970-147T>C MANE Select | ENSP00000449667.2:n.970-147T>C | |
| ENST00000547067.1:n.764T>C | ||
| ENST00000549875.1:c.523-147T>C | ENSP00000473467.1:n.523-147T>C | |
| ENST00000550735.6:c.970-147T>C | ENSP00000449667.2:n.970-147T>C | |
| ENST00000551404.6:c.970-147T>C | ENSP00000449381.2:n.970-147T>C | |
| ENST00000552111.5:n.600-147T>C | ||
| ENST00000553053.5:c.*362-147T>C | ENSP00000448408.2:n.*362-147T>C | |
| NM_003668.3:c.970-147T>C | NP_003659.2:n.970-147T>C | |
| NM_139078.2:c.970-147T>C | NP_620777.1:n.970-147T>C | |
| XM_005253979.2:c.271-147T>C | XP_005254036.2:n.271-147T>C | |
| XM_011538909.1:c.970-147T>C | XP_011537211.1:n.970-147T>C | |
| XM_011538910.1:c.970-147T>C | XP_011537212.1:n.970-147T>C | |
| XM_011538911.1:c.970-147T>C | XP_011537213.1:n.970-147T>C | |
| XM_011538912.1:c.970-147T>C | XP_011537214.1:n.970-147T>C | |
| XM_011538913.1:c.970-147T>C | XP_011537215.1:n.970-147T>C | |
| XM_011538914.1:c.970-147T>C | XP_011537216.1:n.970-147T>C | |
| XM_011538915.1:c.970-147T>C | XP_011537217.1:n.970-147T>C | |
| XM_011538916.1:c.970-147T>C | XP_011537218.1:n.970-147T>C | |
| XM_011538917.1:c.880-147T>C | XP_011537219.1:n.880-147T>C | |
| XM_011538918.1:c.763-147T>C | XP_011537220.1:n.763-147T>C | |
| XM_011538919.1:c.691-147T>C | XP_011537221.1:n.691-147T>C | |
| XM_011538920.1:c.430-147T>C | XP_011537222.1:n.430-147T>C | |
| XM_011538921.1:c.430-147T>C | XP_011537223.1:n.430-147T>C | |
| XM_011538922.1:c.430-147T>C | XP_011537224.1:n.430-147T>C | |
| XR_944806.1:n.1115-147T>C | ||
| XR_944807.1:n.1115-147T>C | ||
| XM_017020125.1:c.772-147T>C | XP_016875614.1:n.772-147T>C | |
| XM_017020126.1:c.763-147T>C | XP_016875615.1:n.763-147T>C | |
| XM_017020127.1:c.691-147T>C | XP_016875616.1:n.691-147T>C | |
| XM_017020128.1:c.691-147T>C | XP_016875617.1:n.691-147T>C | |
| XM_017020129.1:c.691-147T>C | XP_016875618.1:n.691-147T>C | |
| XM_017020130.1:c.691-147T>C | XP_016875619.1:n.691-147T>C | |
| XM_017020131.1:c.691-147T>C | XP_016875620.1:n.691-147T>C | |
| XM_017020132.1:c.430-147T>C | XP_016875621.1:n.430-147T>C | |
| XM_017020133.1:c.430-147T>C | XP_016875622.1:n.430-147T>C | |
| XM_017020134.1:c.430-147T>C | XP_016875623.1:n.430-147T>C | |
| XM_017020135.2:c.430-147T>C | XP_016875624.1:n.430-147T>C | |
| XM_017020136.1:c.430-147T>C | XP_016875625.1:n.430-147T>C | |
| XM_017020137.2:c.430-147T>C | XP_016875626.1:n.430-147T>C | |
| XM_017020138.1:c.271-147T>C | XP_016875627.1:n.271-147T>C | |
| XM_017020139.1:c.271-147T>C | XP_016875628.1:n.271-147T>C | |
| XM_024449247.1:c.430-147T>C | XP_024305015.1:n.430-147T>C | |
| NM_001371479.1:c.970-147T>C | NP_001358408.1:n.970-147T>C | |
| NM_001371480.1:c.970-147T>C | NP_001358409.1:n.970-147T>C | |
| NM_001371481.1:c.889-147T>C | NP_001358410.1:n.889-147T>C | |
| NM_001371482.1:c.880-147T>C | NP_001358411.1:n.880-147T>C | |
| NM_001371483.1:c.880-147T>C | NP_001358412.1:n.880-147T>C | |
| NM_001371484.1:c.868-147T>C | NP_001358413.1:n.868-147T>C | |
| NM_001371485.1:c.763-147T>C | NP_001358414.1:n.763-147T>C | |
| NM_001371486.1:c.763-147T>C | NP_001358415.1:n.763-147T>C | |
| NM_001371487.1:c.673-147T>C | NP_001358416.1:n.673-147T>C | |
| NM_003668.4:c.970-147T>C MANE Select | NP_003659.2:n.970-147T>C | |
| NM_139078.3:c.970-147T>C | NP_620777.1:n.970-147T>C |