Linked Data
ClinVar Variation Id:
2038520
dbSNP Id:
rs773610449
ExAC:
6:51524717 A / G
gnomAD v2:
6-51524717-A-G
gnomAD v4:
6-51659919-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659919A>G , CM000668.2:g.51659919A>G | GRCh38 |
| NC_000006.11:g.51524717A>G , CM000668.1:g.51524717A>G | GRCh37 |
| NC_000006.10:g.51632676A>G | NCBI36 |
| NG_008753.1:g.432707T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10207T>C MANE Select | ENSP00000360158.3:p.Phe3403Leu | |
| ENST00000371117.7:c.10207T>C | ENSP00000360158.3:p.Phe3403Leu | |
| NM_138694.3:c.10207T>C | NP_619639.3:p.Phe3403Leu | |
| XM_011514679.1:c.10207T>C | XP_011512981.1:p.Phe3403Leu | |
| XM_011514680.1:c.10207T>C | XP_011512982.1:p.Phe3403Leu | |
| XM_011514681.1:c.10078T>C | XP_011512983.1:p.Phe3360Leu | |
| XM_011514682.1:c.10069T>C | XP_011512984.1:p.Phe3357Leu | |
| XM_011514683.1:c.9565T>C | XP_011512985.1:p.Phe3189Leu | |
| XM_011514684.1:c.9496T>C | XP_011512986.1:p.Phe3166Leu | |
| XM_011514687.1:c.10157-10699T>C | XP_011512989.1:n.10157-10699T>C | |
| XM_011514690.1:c.4282T>C | XP_011512992.1:p.Phe1428Leu | |
| XM_011514691.1:c.4282T>C | XP_011512993.1:p.Phe1428Leu | |
| XR_926870.1:n.535+7546A>G | ||
| XR_926871.1:n.403+7546A>G | ||
| XR_926872.1:n.535+7546A>G | ||
| XM_011514680.3:c.10207T>C | XP_011512982.1:p.Phe3403Leu | |
| XM_011514682.3:c.10069T>C | XP_011512984.1:p.Phe3357Leu | |
| XM_011514683.3:c.9565T>C | XP_011512985.1:p.Phe3189Leu | |
| XM_011514684.3:c.9496T>C | XP_011512986.1:p.Phe3166Leu | |
| XM_011514690.3:c.4282T>C | XP_011512992.1:p.Phe1428Leu | |
| XM_011514691.3:c.4282T>C | XP_011512993.1:p.Phe1428Leu | |
| XM_017010944.2:c.10207T>C | XP_016866433.1:p.Phe3403Leu | |
| XM_017010945.2:c.10132T>C | XP_016866434.1:p.Phe3378Leu | |
| XM_017010946.2:c.10012T>C | XP_016866435.1:p.Phe3338Leu | |
| XM_017010947.2:c.9943T>C | XP_016866436.1:p.Phe3315Leu | |
| XM_017010948.2:c.9496T>C | XP_016866437.1:p.Phe3166Leu | |
| XM_017010949.2:c.8347T>C | XP_016866438.1:p.Phe2783Leu | |
| XR_001743469.1:n.10483T>C | ||
| XR_001744157.1:n.3145+7546A>G | ||
| XR_926870.2:n.3145+7546A>G | ||
| XR_926871.2:n.3013+7546A>G | ||
| XR_926872.2:n.3145+7546A>G | ||
| NM_138694.4:c.10207T>C MANE Select | NP_619639.3:p.Phe3403Leu |