Linked Data
dbSNP Id:
rs149587862
gnomAD v2:
5-7649780-T-G
gnomAD v3:
5-7649667-T-G
gnomAD v4:
5-7649667-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7649667T>G , CM000667.2:g.7649667T>G | GRCh38 |
| NC_000005.9:g.7649780T>G , CM000667.1:g.7649780T>G | GRCh37 |
| NC_000005.8:g.7702780T>G | NCBI36 |
| NG_046913.1:g.258438T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338316.9:c.720+23351T>G MANE Select | ENSP00000342952.4:n.720+23351T>G | |
| ENST00000338316.8:c.720+23351T>G | ENSP00000342952.4:n.720+23351T>G | |
| ENST00000498598.1:n.420-8359T>G | ||
| ENST00000515681.1:c.87+23351T>G | ENSP00000425069.1:n.87+23351T>G | |
| ENST00000537121.5:c.714+23351T>G | ENSP00000444803.2:n.714+23351T>G | |
| NM_020546.2:c.720+23351T>G | NP_065433.2:n.720+23351T>G | |
| XM_011513942.1:c.720+23351T>G | XP_011512244.1:n.720+23351T>G | |
| XR_427657.2:n.734+23351T>G | ||
| XM_011513942.2:c.720+23351T>G | XP_011512244.1:n.720+23351T>G | |
| XR_001741973.1:n.734+23351T>G | ||
| XR_001741974.2:n.734+23351T>G | ||
| NM_020546.3:c.720+23351T>G MANE Select | NP_065433.2:n.720+23351T>G |