Linked Data
dbSNP Id:
rs767584254
ExAC:
6:137193310 T / G
gnomAD v2:
6-137193310-T-G
gnomAD v3:
6-136872172-T-G
gnomAD v4:
6-136872172-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872172T>G , CM000668.2:g.136872172T>G | GRCh38 |
| NC_000006.11:g.137193310T>G , CM000668.1:g.137193310T>G | GRCh37 |
| NC_000006.10:g.137235003T>G | NCBI36 |
| NG_008462.1:g.54593T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.748-26T>G MANE Select | ENSP00000315680.3:n.748-26T>G | |
| ENST00000541292.6:c.*13-26T>G | ENSP00000441004.1:n.*13-26T>G | |
| ENST00000678002.1:c.436-26T>G | ||
| ENST00000678557.1:c.634-26T>G | ENSP00000502962.1:n.634-26T>G | |
| ENST00000678593.1:c.753-26T>G | ENSP00000503841.1:n.753-26T>G | |
| ENST00000679286.1:c.628-26T>G | ENSP00000503168.1:n.628-26T>G | |
| ENST00000318471.4:c.748-26T>G | ENSP00000315680.3:n.748-26T>G | |
| NM_000288.3:c.748-26T>G | NP_000279.1:n.748-26T>G | |
| XM_005267019.3:c.634-26T>G | XP_005267076.1:n.634-26T>G | |
| XM_006715502.1:c.454-26T>G | XP_006715565.1:n.454-26T>G | |
| XM_011535900.1:c.527-25970T>G | XP_011534202.1:n.527-25970T>G | |
| XM_005267019.4:c.634-26T>G | XP_005267076.1:n.634-26T>G | |
| XM_006715502.2:c.454-26T>G | XP_006715565.1:n.454-26T>G | |
| XM_017010934.2:c.527-25970T>G | XP_016866423.1:n.527-25970T>G | |
| NM_000288.4:c.748-26T>G MANE Select | NP_000279.1:n.748-26T>G |