Linked Data
dbSNP Id:
rs115986413
gnomAD v2:
6-35468016-A-G
gnomAD v3:
6-35500239-A-G
gnomAD v4:
6-35500239-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500239A>G , CM000668.2:g.35500239A>G | GRCh38 |
| NC_000006.11:g.35468016A>G , CM000668.1:g.35468016A>G | GRCh37 |
| NC_000006.10:g.35575994A>G | NCBI36 |
| NG_009077.1:g.17632T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1324-87T>C MANE Select | ENSP00000229771.6:n.1324-87T>C | |
| ENST00000229771.10:c.1324-87T>C | ENSP00000229771.6:n.1324-87T>C | |
| ENST00000322263.8:c.1165-87T>C | ENSP00000319414.4:n.1165-87T>C | |
| ENST00000495781.1:n.500-87T>C | ||
| ENST00000614066.4:c.1318-87T>C | ENSP00000477534.1:n.1318-87T>C | |
| NM_001289395.1:c.1165-87T>C | NP_001276324.1:n.1165-87T>C | |
| NM_003322.4:c.1324-87T>C | NP_003313.3:n.1324-87T>C | |
| NM_003322.5:c.1324-87T>C | NP_003313.3:n.1324-87T>C | |
| NM_003322.6:c.1324-87T>C MANE Select | NP_003313.3:n.1324-87T>C | |
| NM_001289395.2:c.1165-87T>C | NP_001276324.1:n.1165-87T>C |