Linked Data
dbSNP Id:
rs755460764
ExAC:
13:102379006 T / C
gnomAD v2:
13-102379006-T-C
gnomAD v4:
13-101726656-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101726656T>C , CM000675.2:g.101726656T>C | GRCh38 |
| NC_000013.10:g.102379006T>C , CM000675.1:g.102379006T>C | GRCh37 |
| NC_000013.9:g.101177007T>C | NCBI36 |
| NG_008317.1:g.680119A>G | |
| NG_008317.2:g.680119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376131.9:c.578A>G | ENSP00000365301.3:p.Lys193Arg | |
| ENST00000418923.3:c.461A>G | ENSP00000516414.1:p.Lys154Arg | |
| ENST00000706491.1:c.*167A>G | ENSP00000516413.1:n.*167A>G | |
| ENST00000706492.1:c.*382A>G | ENSP00000516415.1:n.*382A>G | |
| ENST00000706493.1:c.*477A>G | ENSP00000516416.1:n.*477A>G | |
| ENST00000706494.1:c.311A>G | ENSP00000516417.1:p.Lys104Arg | |
| ENST00000376143.5:c.563A>G MANE Select | ENSP00000365313.4:p.Lys188Arg | |
| ENST00000376131.8:c.578A>G | ENSP00000365301.3:p.Lys193Arg | |
| ENST00000376143.4:c.563A>G | ENSP00000365313.4:p.Lys188Arg | |
| NM_004115.3:c.563A>G | NP_004106.1:p.Lys188Arg | |
| NM_175929.2:c.578A>G | NP_787125.1:p.Lys193Arg | |
| XM_011521053.1:c.383A>G | XP_011519355.1:p.Lys128Arg | |
| NM_001321931.1:c.311A>G | NP_001308860.1:p.Lys104Arg | |
| NM_001321932.1:c.374A>G | NP_001308861.1:p.Lys125Arg | |
| NM_001321933.1:c.383A>G | NP_001308862.1:p.Lys128Arg | |
| NM_001321934.1:c.311A>G | NP_001308863.1:p.Lys104Arg | |
| NM_001321935.1:c.311A>G | NP_001308864.1:p.Lys104Arg | |
| NM_001321936.1:c.374A>G | NP_001308865.1:p.Lys125Arg | |
| NM_001321938.1:c.383A>G | NP_001308867.1:p.Lys128Arg | |
| NM_001321939.1:c.467A>G | NP_001308868.1:p.Lys156Arg | |
| NM_001321940.1:c.383A>G | NP_001308869.1:p.Lys128Arg | |
| NM_001321941.1:c.377A>G | NP_001308870.1:p.Lys126Arg | |
| NM_001321942.1:c.311A>G | NP_001308871.1:p.Lys104Arg | |
| NM_001321943.1:c.311A>G | NP_001308872.1:p.Lys104Arg | |
| NM_001321944.1:c.374A>G | NP_001308873.1:p.Lys125Arg | |
| NM_001321945.1:c.461A>G | NP_001308874.1:p.Lys154Arg | |
| NM_001321946.1:c.311A>G | NP_001308875.1:p.Lys104Arg | |
| NM_001321947.1:c.422A>G | NP_001308876.1:p.Lys141Arg | |
| NM_001321948.1:c.461A>G | NP_001308877.1:p.Lys154Arg | |
| NM_001321949.1:c.311A>G | NP_001308878.1:p.Lys104Arg | |
| NM_001321938.2:c.383A>G | NP_001308867.1:p.Lys128Arg | |
| NM_001321945.2:c.461A>G | NP_001308874.1:p.Lys154Arg | |
| NM_001321946.2:c.311A>G | NP_001308875.1:p.Lys104Arg | |
| NM_001321947.2:c.422A>G | NP_001308876.1:p.Lys141Arg | |
| NM_001321948.2:c.461A>G | NP_001308877.1:p.Lys154Arg | |
| NM_001321939.2:c.467A>G | NP_001308868.1:p.Lys156Arg | |
| NM_001321941.2:c.377A>G | NP_001308870.1:p.Lys126Arg | |
| NM_001379342.1:c.461A>G | NP_001366271.1:p.Lys154Arg | |
| NM_004115.4:c.563A>G MANE Select | NP_004106.1:p.Lys188Arg | |
| NM_175929.3:c.578A>G | NP_787125.1:p.Lys193Arg |