Linked Data
ClinVar Variation Id:
478350
dbSNP Id:
rs548516848
ExAC:
21:34011411 A / G
gnomAD v2:
21-34011411-A-G
gnomAD v3:
21-32639101-A-G
gnomAD v4:
21-32639101-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.32639101A>G , CM000683.2:g.32639101A>G | GRCh38 |
| NC_000021.8:g.34011411A>G , CM000683.1:g.34011411A>G | GRCh37 |
| NC_000021.7:g.32933282A>G | NCBI36 |
| NG_030017.1:g.93941T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382499.7:c.3839T>C | ENSP00000371939.2:p.Leu1280Pro | |
| ENST00000433931.7:c.3839T>C | ENSP00000409667.2:p.Leu1280Pro | |
| ENST00000630077.3:c.3581T>C | ENSP00000487560.1:p.Leu1194Pro | |
| ENST00000674204.1:c.3722T>C | ENSP00000501504.1:p.Leu1241Pro | |
| ENST00000674308.1:c.3722T>C | ENSP00000501426.1:p.Leu1241Pro | |
| ENST00000674351.1:c.3722T>C MANE Select | ENSP00000501530.1:p.Leu1241Pro | |
| ENST00000357345.7:c.3674T>C | ENSP00000349903.3:p.Leu1225Pro | |
| ENST00000382491.7:c.3581T>C | ENSP00000371931.4:p.Leu1194Pro | |
| ENST00000382499.6:c.3839T>C | ENSP00000371939.2:p.Leu1280Pro | |
| ENST00000418301.3:c.184T>C | ||
| ENST00000433931.6:c.3839T>C | ENSP00000409667.2:p.Leu1280Pro | |
| ENST00000438952.5:c.348T>C | ||
| ENST00000630077.2:c.3581T>C | ENSP00000487560.1:p.Leu1194Pro | |
| NM_001160302.1:c.3674T>C | NP_001153774.1:p.Leu1225Pro | |
| NM_001160306.1:c.3581T>C | NP_001153778.1:p.Leu1194Pro | |
| NM_003895.3:c.3839T>C | NP_003886.3:p.Leu1280Pro | |
| NM_203446.2:c.3839T>C | NP_982271.2:p.Leu1280Pro | |
| XM_017028494.1:c.3674T>C | XP_016883983.1:p.Leu1225Pro | |
| XM_017028495.2:c.3824T>C | XP_016883984.1:p.Leu1275Pro | |
| XM_017028496.1:c.3635T>C | XP_016883985.1:p.Leu1212Pro | |
| XM_017028497.2:c.3791T>C | XP_016883986.1:p.Leu1264Pro | |
| XM_017028498.1:c.3596T>C | XP_016883987.1:p.Leu1199Pro | |
| XM_017028499.2:c.3698T>C | XP_016883988.1:p.Leu1233Pro | |
| XM_017028500.1:c.3722T>C | XP_016883989.1:p.Leu1241Pro | |
| XM_017028501.1:c.3722T>C | XP_016883990.1:p.Leu1241Pro | |
| XM_017028502.1:c.3674T>C | XP_016883991.1:p.Leu1225Pro | |
| XM_017028503.1:c.3635T>C | XP_016883992.1:p.Leu1212Pro | |
| XM_017028504.1:c.3596T>C | XP_016883993.1:p.Leu1199Pro | |
| XM_017028505.2:c.3698T>C | XP_016883994.1:p.Leu1233Pro | |
| NM_001160306.2:c.3581T>C | NP_001153778.1:p.Leu1194Pro | |
| NM_203446.3:c.3722T>C MANE Select | NP_982271.3:p.Leu1241Pro |