Linked Data
dbSNP Id:
rs10994994
gnomAD v2:
10-63747685-T-C
gnomAD v3:
10-61987926-T-C
gnomAD v4:
10-61987926-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61987926T>C , CM000672.2:g.61987926T>C | GRCh38 |
| NC_000010.10:g.63747685T>C , CM000672.1:g.63747685T>C | GRCh37 |
| NC_000010.9:g.63417691T>C | NCBI36 |
| NG_030027.1:g.91673T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279873.12:c.503-12165T>C MANE Select | ENSP00000279873.7:n.503-12165T>C | |
| ENST00000644638.1:c.503-12165T>C | ENSP00000494412.1:n.503-12165T>C | |
| ENST00000681100.1:c.503-12165T>C | ENSP00000506119.1:n.503-12165T>C | |
| ENST00000279873.11:c.503-12165T>C | ENSP00000279873.7:n.503-12165T>C | |
| NM_032199.2:c.503-12165T>C | NP_115575.1:n.503-12165T>C | |
| XM_011540262.1:c.502+47518T>C | XP_011538564.1:n.502+47518T>C | |
| XM_024448230.1:c.-65-12165T>C | XP_024303998.1:n.-65-12165T>C | |
| NM_032199.3:c.503-12165T>C MANE Select | NP_115575.1:n.503-12165T>C |