Linked Data
dbSNP Id:
rs1147857
gnomAD v2:
6-148841752-T-C
gnomAD v3:
6-148520616-T-C
gnomAD v4:
6-148520616-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.148520616T>C , CM000668.2:g.148520616T>C | GRCh38 |
| NC_000006.11:g.148841752T>C , CM000668.1:g.148841752T>C | GRCh37 |
| NC_000006.10:g.148883445T>C | NCBI36 |
| NG_051927.1:g.253341T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367467.8:c.1209+723T>C MANE Select | ENSP00000356437.3:n.1209+723T>C | |
| ENST00000636279.1:c.969+234T>C | ENSP00000490865.1:n.969+234T>C | |
| ENST00000367467.7:c.1209+723T>C | ENSP00000356437.3:n.1209+723T>C | |
| NM_015278.3:c.1209+723T>C | NP_056093.3:n.1209+723T>C | |
| XM_005266874.3:c.1317+723T>C | XP_005266931.1:n.1317+723T>C | |
| XM_005266875.1:c.492+723T>C | XP_005266932.1:n.492+723T>C | |
| XM_006715406.2:c.1173+723T>C | XP_006715469.1:n.1173+723T>C | |
| XM_011535637.1:c.1206+723T>C | XP_011533939.1:n.1206+723T>C | |
| XM_011535638.1:c.1182+723T>C | XP_011533940.1:n.1182+723T>C | |
| XM_011535639.1:c.1098+723T>C | XP_011533941.1:n.1098+723T>C | |
| XM_011535640.1:c.1074+723T>C | XP_011533942.1:n.1074+723T>C | |
| NM_001346505.1:c.1074+723T>C | NP_001333434.1:n.1074+723T>C | |
| NM_001346506.1:c.837+723T>C | NP_001333435.1:n.837+723T>C | |
| NM_001346507.1:c.492+723T>C | NP_001333436.1:n.492+723T>C | |
| NM_001346508.1:c.981+234T>C | NP_001333437.1:n.981+234T>C | |
| NM_001346509.1:c.858+234T>C | NP_001333438.1:n.858+234T>C | |
| NM_015278.4:c.1209+723T>C | NP_056093.3:n.1209+723T>C | |
| XM_017010598.2:c.1698+234T>C | XP_016866087.1:n.1698+234T>C | |
| XM_017010599.1:c.1587+234T>C | XP_016866088.1:n.1587+234T>C | |
| XM_017010600.1:c.1563+234T>C | XP_016866089.1:n.1563+234T>C | |
| XM_017010605.1:c.1326+234T>C | XP_016866094.1:n.1326+234T>C | |
| XM_024446384.1:c.1098+723T>C | XP_024302152.1:n.1098+723T>C | |
| XM_024446385.1:c.972+234T>C | XP_024302153.1:n.972+234T>C | |
| NM_015278.5:c.1209+723T>C MANE Select | NP_056093.3:n.1209+723T>C | |
| NM_001346505.2:c.1074+723T>C | NP_001333434.1:n.1074+723T>C | |
| NM_001346506.2:c.837+723T>C | NP_001333435.1:n.837+723T>C | |
| NM_001346507.2:c.492+723T>C | NP_001333436.1:n.492+723T>C | |
| NM_001346508.2:c.981+234T>C | NP_001333437.1:n.981+234T>C | |
| NM_001346509.2:c.858+234T>C | NP_001333438.1:n.858+234T>C |