Linked Data
ClinVar Variation Id:
256164
dbSNP Id:
rs31653
ExAC:
7:87032613 A / G
gnomAD v2:
7-87032613-A-G
gnomAD v3:
7-87403297-A-G
gnomAD v4:
7-87403297-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87403297A>G , CM000669.2:g.87403297A>G | GRCh38 |
| NC_000007.13:g.87032613A>G , CM000669.1:g.87032613A>G | GRCh37 |
| NC_000007.12:g.86870549A>G | NCBI36 |
| NG_007118.1:g.82136T>C | |
| NG_007118.2:g.82136T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.3487-16T>C | ENSP00000352135.3:n.3487-16T>C | |
| ENST00000649586.2:c.3487-16T>C MANE Select | ENSP00000496956.2:n.3487-16T>C | |
| ENST00000265723.8:c.3508-16T>C | ENSP00000265723.4:n.3508-16T>C | |
| ENST00000358400.7:c.3346-16T>C | ENSP00000351172.3:n.3346-16T>C | |
| ENST00000359206.7:c.3487-16T>C | ENSP00000352135.3:n.3487-16T>C | |
| ENST00000453593.5:c.3346-16T>C | ENSP00000392983.1:n.3346-16T>C | |
| ENST00000467983.1:n.83T>C | ||
| NM_000443.3:c.3487-16T>C | NP_000434.1:n.3487-16T>C | |
| NM_018849.2:c.3508-16T>C | NP_061337.1:n.3508-16T>C | |
| NM_018850.2:c.3346-16T>C | NP_061338.1:n.3346-16T>C | |
| XM_011516308.1:c.3508-16T>C | XP_011514610.1:n.3508-16T>C | |
| XM_011516309.1:c.3487-16T>C | XP_011514611.1:n.3487-16T>C | |
| XM_011516310.1:c.3403-16T>C | XP_011514612.1:n.3403-16T>C | |
| XM_011516311.1:c.3379-16T>C | XP_011514613.1:n.3379-16T>C | |
| XM_011516312.1:c.3367-16T>C | XP_011514614.1:n.3367-16T>C | |
| XM_011516313.1:c.3346-16T>C | XP_011514615.1:n.3346-16T>C | |
| XM_011516314.1:c.3529-16T>C | XP_011514616.1:n.3529-16T>C | |
| XM_011516315.1:c.2848-16T>C | XP_011514617.1:n.2848-16T>C | |
| XM_011516308.3:c.3778-16T>C | XP_011514610.3:n.3778-16T>C | |
| XM_011516309.3:c.3757-16T>C | XP_011514611.3:n.3757-16T>C | |
| XM_011516310.3:c.3673-16T>C | XP_011514612.3:n.3673-16T>C | |
| XM_011516311.3:c.3649-16T>C | XP_011514613.3:n.3649-16T>C | |
| XM_011516312.3:c.3637-16T>C | XP_011514614.3:n.3637-16T>C | |
| XM_011516313.3:c.3616-16T>C | XP_011514615.2:n.3616-16T>C | |
| XM_011516315.3:c.2848-16T>C | XP_011514617.2:n.2848-16T>C | |
| XM_017012323.2:c.3508-16T>C | XP_016867812.1:n.3508-16T>C | |
| XR_001744809.2:n.4016-16T>C | ||
| NM_000443.4:c.3487-16T>C MANE Select | NP_000434.1:n.3487-16T>C | |
| NM_018849.3:c.3508-16T>C | NP_061337.1:n.3508-16T>C | |
| NM_018850.3:c.3346-16T>C | NP_061338.1:n.3346-16T>C |