Linked Data
dbSNP Id:
rs761496318
ExAC:
6:36645610 G / A
gnomAD v2:
6-36645610-G-A
gnomAD v3:
6-36677833-G-A
gnomAD v4:
6-36677833-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36677833G>A , CM000668.2:g.36677833G>A | GRCh38 |
| NC_000006.11:g.36645610G>A , CM000668.1:g.36645610G>A | GRCh37 |
| NC_000006.10:g.36753588G>A | NCBI36 |
| NG_009364.1:g.4152G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000448526.6:c.-37-69G>A (CDKN1A) | ENSP00000409259.3:n.-37-69G>A | |
| ENST00000459970.1:n.89G>A (CDKN1A) | ||
| ENST00000615513.4:c.-6+1309G>A (CDKN1A) | ENSP00000482768.1:n.-6+1309G>A | |
| NM_001220777.1:c.-6+1309G>A (CDKN1A) | NP_001207706.1:n.-6+1309G>A | |
| NM_001291549.1:c.-4G>A (CDKN1A) | NP_001278478.1:n.-4G>A | |
| NM_078467.2:c.-37-69G>A (CDKN1A) | NP_510867.1:n.-37-69G>A | |
| NR_144384.1:n.727C>T (DINOL) | ||
| NM_001220777.2:c.-6+1309G>A (CDKN1A) | NP_001207706.1:n.-6+1309G>A | |
| NM_001291549.3:c.-4G>A (CDKN1A) | NP_001278478.1:n.-4G>A | |
| NM_001374509.1:c.-4G>A (CDKN1A) | NP_001361438.1:n.-4G>A | |
| NM_001374510.1:c.34+1263G>A (CDKN1A) | NP_001361439.1:n.34+1263G>A | |
| NM_078467.3:c.-37-69G>A (CDKN1A) | NP_510867.1:n.-37-69G>A |