Linked Data
ClinVar Variation Id:
216821
dbSNP Id:
rs199900211
ExAC:
6:51483994 A / G
gnomAD v2:
6-51483994-A-G
gnomAD v3:
6-51619196-A-G
gnomAD v4:
6-51619196-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51619196A>G , CM000668.2:g.51619196A>G | GRCh38 |
| NC_000006.11:g.51483994A>G , CM000668.1:g.51483994A>G | GRCh37 |
| NC_000006.10:g.51591953A>G | NCBI36 |
| NG_008753.1:g.473430T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.12110T>C MANE Select | ENSP00000360158.3:p.Leu4037Pro | |
| ENST00000371117.7:c.12110T>C | ENSP00000360158.3:p.Leu4037Pro | |
| NM_138694.3:c.12110T>C | NP_619639.3:p.Leu4037Pro | |
| XM_011514679.1:c.12110T>C | XP_011512981.1:p.Leu4037Pro | |
| XM_011514680.1:c.12110T>C | XP_011512982.1:p.Leu4037Pro | |
| XM_011514681.1:c.11981T>C | XP_011512983.1:p.Leu3994Pro | |
| XM_011514682.1:c.11972T>C | XP_011512984.1:p.Leu3991Pro | |
| XM_011514683.1:c.11468T>C | XP_011512985.1:p.Leu3823Pro | |
| XM_011514684.1:c.11399T>C | XP_011512986.1:p.Leu3800Pro | |
| XM_011514690.1:c.6185T>C | XP_011512992.1:p.Leu2062Pro | |
| XM_011514691.1:c.6185T>C | XP_011512993.1:p.Leu2062Pro | |
| XM_011514680.3:c.12110T>C | XP_011512982.1:p.Leu4037Pro | |
| XM_011514682.3:c.11972T>C | XP_011512984.1:p.Leu3991Pro | |
| XM_011514683.3:c.11468T>C | XP_011512985.1:p.Leu3823Pro | |
| XM_011514684.3:c.11399T>C | XP_011512986.1:p.Leu3800Pro | |
| XM_011514690.3:c.6185T>C | XP_011512992.1:p.Leu2062Pro | |
| XM_011514691.3:c.6185T>C | XP_011512993.1:p.Leu2062Pro | |
| XM_017010944.2:c.12110T>C | XP_016866433.1:p.Leu4037Pro | |
| XM_017010945.2:c.12035T>C | XP_016866434.1:p.Leu4012Pro | |
| XM_017010946.2:c.11915T>C | XP_016866435.1:p.Leu3972Pro | |
| XM_017010947.2:c.11846T>C | XP_016866436.1:p.Leu3949Pro | |
| XM_017010948.2:c.11399T>C | XP_016866437.1:p.Leu3800Pro | |
| XM_017010949.2:c.10250T>C | XP_016866438.1:p.Leu3417Pro | |
| NM_138694.4:c.12110T>C MANE Select | NP_619639.3:p.Leu4037Pro |