Linked Data
dbSNP Id:
rs362811
gnomAD v2:
7-103212782-T-C
gnomAD v3:
7-103572335-T-C
gnomAD v4:
7-103572335-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103572335T>C , CM000669.2:g.103572335T>C | GRCh38 |
| NC_000007.13:g.103212782T>C , CM000669.1:g.103212782T>C | GRCh37 |
| NC_000007.12:g.103000018T>C | NCBI36 |
| NG_011877.1:g.422182A>G | |
| NG_011877.2:g.422182A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.4512-75A>G | ENSP00000388446.3:n.4512-75A>G | |
| ENST00000428762.6:c.4512-75A>G MANE Select | ENSP00000392423.1:n.4512-75A>G | |
| ENST00000679867.1:n.4396-75A>G | ||
| ENST00000680706.1:n.2215-75A>G | ||
| ENST00000681034.1:c.4512-75A>G | ENSP00000506075.1:n.4512-75A>G | |
| ENST00000343529.9:c.4512-75A>G | ENSP00000345694.5:n.4512-75A>G | |
| ENST00000424685.2:c.4512-75A>G | ENSP00000388446.2:n.4512-75A>G | |
| ENST00000428762.5:c.4512-75A>G | ENSP00000392423.1:n.4512-75A>G | |
| NM_005045.3:c.4512-75A>G | NP_005036.2:n.4512-75A>G | |
| NM_173054.2:c.4512-75A>G | NP_774959.1:n.4512-75A>G | |
| NM_005045.4:c.4512-75A>G MANE Select | NP_005036.2:n.4512-75A>G | |
| NM_173054.3:c.4512-75A>G | NP_774959.1:n.4512-75A>G |