Linked Data
dbSNP Id:
rs535955498
ExAC:
5:177036056 T / G
gnomAD v2:
5-177036056-T-G
gnomAD v4:
5-177609055-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177609055T>G , CM000667.2:g.177609055T>G | GRCh38 |
| NC_000005.9:g.177036056T>G , CM000667.1:g.177036056T>G | GRCh37 |
| NC_000005.8:g.176968662T>G | NCBI36 |
| NG_015977.1:g.13938T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.828+41T>G MANE Select | ENSP00000029410.5:n.828+41T>G | |
| ENST00000029410.9:c.828+41T>G | ENSP00000029410.5:n.828+41T>G | |
| ENST00000505145.1:n.1926+41T>G | ||
| ENST00000505433.5:c.*334+41T>G | ENSP00000425591.1:n.*334+41T>G | |
| ENST00000515353.1:n.1650+41T>G | ||
| NM_007255.2:c.828+41T>G | NP_009186.1:n.828+41T>G | |
| XM_005265805.2:c.486+41T>G | XP_005265862.1:n.486+41T>G | |
| XM_006714816.2:c.348+41T>G | XP_006714879.1:n.348+41T>G | |
| XM_011534421.1:c.486+41T>G | XP_011532723.1:n.486+41T>G | |
| XM_006714816.4:c.348+41T>G | XP_006714879.1:n.348+41T>G | |
| XM_017008999.2:c.486+41T>G | XP_016864488.1:n.486+41T>G | |
| NM_007255.3:c.828+41T>G MANE Select | NP_009186.1:n.828+41T>G |