Linked Data
dbSNP Id:
rs2007153
gnomAD v2:
9-136503819-T-C
gnomAD v3:
9-133638697-T-C
gnomAD v4:
9-133638697-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133638697T>C , CM000671.2:g.133638697T>C | GRCh38 |
| NC_000009.11:g.136503819T>C , CM000671.1:g.136503819T>C | GRCh37 |
| NC_000009.10:g.135493640T>C | NCBI36 |
| NG_008645.1:g.7335T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263611.3:c.333+1987T>C | ENSP00000263611.3:n.333+1987T>C | |
| ENST00000393056.8:c.340-1149T>C MANE Select | ENSP00000376776.2:n.340-1149T>C | |
| ENST00000263611.2:c.297+1987T>C | ENSP00000263611.2:n.297+1987T>C | |
| ENST00000393056.6:c.340-1149T>C | ENSP00000376776.2:n.340-1149T>C | |
| NM_000787.3:c.340-1149T>C | NP_000778.3:n.340-1149T>C | |
| NM_000787.4:c.340-1149T>C MANE Select | NP_000778.3:n.340-1149T>C |