Linked Data
ClinVar Variation Id:
497776
dbSNP Id:
rs375145340
ExAC:
6:51930807 A / G
gnomAD v2:
6-51930807-A-G
gnomAD v3:
6-52066009-A-G
gnomAD v4:
6-52066009-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52066009A>G , CM000668.2:g.52066009A>G | GRCh38 |
| NC_000006.11:g.51930807A>G , CM000668.1:g.51930807A>G | GRCh37 |
| NC_000006.10:g.52038766A>G | NCBI36 |
| NG_008753.1:g.26617T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.847T>C MANE Select | ENSP00000360158.3:p.Phe283Leu | |
| ENST00000340994.4:c.847T>C | ENSP00000341097.4:p.Phe283Leu | |
| ENST00000371117.7:c.847T>C | ENSP00000360158.3:p.Phe283Leu | |
| NM_138694.3:c.847T>C | NP_619639.3:p.Phe283Leu | |
| NM_170724.2:c.847T>C | NP_733842.2:p.Phe283Leu | |
| XM_011514679.1:c.847T>C | XP_011512981.1:p.Phe283Leu | |
| XM_011514680.1:c.847T>C | XP_011512982.1:p.Phe283Leu | |
| XM_011514681.1:c.847T>C | XP_011512983.1:p.Phe283Leu | |
| XM_011514682.1:c.847T>C | XP_011512984.1:p.Phe283Leu | |
| XM_011514683.1:c.847T>C | XP_011512985.1:p.Phe283Leu | |
| XM_011514684.1:c.136T>C | XP_011512986.1:p.Phe46Leu | |
| XM_011514685.1:c.847T>C | XP_011512987.1:p.Phe283Leu | |
| XM_011514686.1:c.847T>C | XP_011512988.1:p.Phe283Leu | |
| XM_011514687.1:c.847T>C | XP_011512989.1:p.Phe283Leu | |
| XM_011514688.1:c.847T>C | XP_011512990.1:p.Phe283Leu | |
| XM_011514689.1:c.847T>C | XP_011512991.1:p.Phe283Leu | |
| XM_011514680.3:c.847T>C | XP_011512982.1:p.Phe283Leu | |
| XM_011514682.3:c.847T>C | XP_011512984.1:p.Phe283Leu | |
| XM_011514683.3:c.847T>C | XP_011512985.1:p.Phe283Leu | |
| XM_011514684.3:c.136T>C | XP_011512986.1:p.Phe46Leu | |
| XM_011514686.2:c.847T>C | XP_011512988.1:p.Phe283Leu | |
| XM_011514688.2:c.847T>C | XP_011512990.1:p.Phe283Leu | |
| XM_017010944.2:c.847T>C | XP_016866433.1:p.Phe283Leu | |
| XM_017010945.2:c.772T>C | XP_016866434.1:p.Phe258Leu | |
| XM_017010946.2:c.847T>C | XP_016866435.1:p.Phe283Leu | |
| XM_017010947.2:c.847T>C | XP_016866436.1:p.Phe283Leu | |
| XM_017010948.2:c.136T>C | XP_016866437.1:p.Phe46Leu | |
| XM_017010950.1:c.847T>C | XP_016866439.1:p.Phe283Leu | |
| XM_017010951.1:c.847T>C | XP_016866440.1:p.Phe283Leu | |
| XM_017010952.1:c.847T>C | XP_016866441.1:p.Phe283Leu | |
| XR_001743469.1:n.1123T>C | ||
| NM_138694.4:c.847T>C MANE Select | NP_619639.3:p.Phe283Leu | |
| NM_170724.3:c.847T>C | NP_733842.2:p.Phe283Leu |