Linked Data
dbSNP Id:
rs4702484
gnomAD v2:
5-7649860-C-T
gnomAD v3:
5-7649747-C-T
gnomAD v4:
5-7649747-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7649747C>T , CM000667.2:g.7649747C>T | GRCh38 |
| NC_000005.9:g.7649860C>T , CM000667.1:g.7649860C>T | GRCh37 |
| NC_000005.8:g.7702860C>T | NCBI36 |
| NG_046913.1:g.258518C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338316.9:c.720+23431C>T MANE Select | ENSP00000342952.4:n.720+23431C>T | |
| ENST00000338316.8:c.720+23431C>T | ENSP00000342952.4:n.720+23431C>T | |
| ENST00000498598.1:n.420-8279C>T | ||
| ENST00000515681.1:c.87+23431C>T | ENSP00000425069.1:n.87+23431C>T | |
| ENST00000537121.5:c.714+23431C>T | ENSP00000444803.2:n.714+23431C>T | |
| NM_020546.2:c.720+23431C>T | NP_065433.2:n.720+23431C>T | |
| XM_011513942.1:c.720+23431C>T | XP_011512244.1:n.720+23431C>T | |
| XR_427657.2:n.734+23431C>T | ||
| XM_011513942.2:c.720+23431C>T | XP_011512244.1:n.720+23431C>T | |
| XR_001741973.1:n.734+23431C>T | ||
| XR_001741974.2:n.734+23431C>T | ||
| NM_020546.3:c.720+23431C>T MANE Select | NP_065433.2:n.720+23431C>T |