Linked Data
ClinVar Variation Id:
370559
ClinVar RCV Id:
RCV002488838
dbSNP Id:
rs1057516588
gnomAD v2:
6-51747890-C-A
gnomAD v4:
6-51883092-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51883092C>A , CM000668.2:g.51883092C>A | GRCh38 |
| NC_000006.11:g.51747890C>A , CM000668.1:g.51747890C>A | GRCh37 |
| NC_000006.10:g.51855849C>A | NCBI36 |
| NG_008753.1:g.209534G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.7350+1G>T MANE Select | ENSP00000360158.3:n.7350+1G>T | |
| ENST00000340994.4:c.7350+1G>T | ENSP00000341097.4:n.7350+1G>T | |
| ENST00000371117.7:c.7350+1G>T | ENSP00000360158.3:n.7350+1G>T | |
| NM_138694.3:c.7350+1G>T | NP_619639.3:n.7350+1G>T | |
| NM_170724.2:c.7350+1G>T | NP_733842.2:n.7350+1G>T | |
| XM_011514679.1:c.7350+1G>T | XP_011512981.1:n.7350+1G>T | |
| XM_011514680.1:c.7350+1G>T | XP_011512982.1:n.7350+1G>T | |
| XM_011514681.1:c.7350+1G>T | XP_011512983.1:n.7350+1G>T | |
| XM_011514682.1:c.7350+1G>T | XP_011512984.1:n.7350+1G>T | |
| XM_011514683.1:c.6708+1G>T | XP_011512985.1:n.6708+1G>T | |
| XM_011514684.1:c.6639+1G>T | XP_011512986.1:n.6639+1G>T | |
| XM_011514685.1:c.7350+1G>T | XP_011512987.1:n.7350+1G>T | |
| XM_011514686.1:c.7350+1G>T | XP_011512988.1:n.7350+1G>T | |
| XM_011514687.1:c.7350+1G>T | XP_011512989.1:n.7350+1G>T | |
| XM_011514688.1:c.7350+1G>T | XP_011512990.1:n.7350+1G>T | |
| XM_011514689.1:c.7350+1G>T | XP_011512991.1:n.7350+1G>T | |
| XM_011514690.1:c.1425+1G>T | XP_011512992.1:n.1425+1G>T | |
| XM_011514691.1:c.1425+1G>T | XP_011512993.1:n.1425+1G>T | |
| XM_011514680.3:c.7350+1G>T | XP_011512982.1:n.7350+1G>T | |
| XM_011514682.3:c.7350+1G>T | XP_011512984.1:n.7350+1G>T | |
| XM_011514683.3:c.6708+1G>T | XP_011512985.1:n.6708+1G>T | |
| XM_011514684.3:c.6639+1G>T | XP_011512986.1:n.6639+1G>T | |
| XM_011514686.2:c.7350+1G>T | XP_011512988.1:n.7350+1G>T | |
| XM_011514688.2:c.7350+1G>T | XP_011512990.1:n.7350+1G>T | |
| XM_011514690.3:c.1425+1G>T | XP_011512992.1:n.1425+1G>T | |
| XM_011514691.3:c.1425+1G>T | XP_011512993.1:n.1425+1G>T | |
| XM_017010944.2:c.7350+1G>T | XP_016866433.1:n.7350+1G>T | |
| XM_017010945.2:c.7275+1G>T | XP_016866434.1:n.7275+1G>T | |
| XM_017010946.2:c.7350+1G>T | XP_016866435.1:n.7350+1G>T | |
| XM_017010947.2:c.7086+1G>T | XP_016866436.1:n.7086+1G>T | |
| XM_017010948.2:c.6639+1G>T | XP_016866437.1:n.6639+1G>T | |
| XM_017010949.2:c.5490+1G>T | XP_016866438.1:n.5490+1G>T | |
| XM_017010950.1:c.7350+1G>T | XP_016866439.1:n.7350+1G>T | |
| XM_017010951.1:c.7350+1G>T | XP_016866440.1:n.7350+1G>T | |
| XM_017010952.1:c.7350+1G>T | XP_016866441.1:n.7350+1G>T | |
| XR_001743469.1:n.7626+1G>T | ||
| NM_138694.4:c.7350+1G>T MANE Select | NP_619639.3:n.7350+1G>T | |
| NM_170724.3:c.7350+1G>T | NP_733842.2:n.7350+1G>T |