Linked Data
dbSNP Id:
rs166881
gnomAD v2:
6-118618981-T-C
gnomAD v3:
6-118297818-T-C
gnomAD v4:
6-118297818-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.118297818T>C , CM000668.2:g.118297818T>C | GRCh38 |
| NC_000006.11:g.118618981T>C , CM000668.1:g.118618981T>C | GRCh37 |
| NC_000006.10:g.118725674T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360388.9:c.1002+12480T>C MANE Select | ENSP00000353557.4:n.1002+12480T>C | |
| ENST00000360388.8:c.1002+12480T>C | ENSP00000353557.4:n.1002+12480T>C | |
| ENST00000621341.1:c.825+12480T>C | ENSP00000484738.1:n.825+12480T>C | |
| NM_001029858.3:c.1002+12480T>C | NP_001025029.2:n.1002+12480T>C | |
| XM_005266865.3:c.1002+12480T>C | XP_005266922.1:n.1002+12480T>C | |
| XR_942913.1:n.342-7308A>G | ||
| XM_005266865.4:c.1002+12480T>C | XP_005266922.1:n.1002+12480T>C | |
| NM_001029858.4:c.1002+12480T>C MANE Select | NP_001025029.2:n.1002+12480T>C |